Multicystic Dysplastic Kidney (MCDK)
Definition
Multicystic dysplastic kidney (MCDK) is a kidney or kidneys with
non-functioning irregular cysts of various sizes. The condition is
also known as renal cystic dysplasia and Potter type II.
Etiology
A major hypothesis for the development of MCDK is first trimester
obstruction of the urinary tract resulting in dysplastic evolution of
the kidneys with a variety of clinical and pathological
manifestations. [1] An alternative hypothesis is the failure of the
mesonephric blastema to form nephrons. [2]
Incidence
MCDK occurs in approximately 1 in 1000 births [2], while the
overall incidence of all prenatally determined urological anomalies
is 1-2% [3] Among all fetal urological abnormalities, MCDK is one of
the most frequent. [4] In a review of 102 cases of MCDK the
following was noted [5]:
Unilateral (76%)
Bilateral (24%)
Associations
A number of associations with non-renal abnormalities are reported
[5]:
Associated non-renal abnormalities, unilateral (26%)
Associated non-renal abnormalities, bilateral (67%)
Male to female ratio: 2.4:1
Chromosomal abnormalities: Increased (particularly females)
Females: more likely to have bilateral MCDK.
A wide range of anomalies are possible and may include multiple
anomalies of face, fingers, lung, heart, bowels, and
genitourinary tract. [6]
Prenatal exposure to antiepileptic drugs (AEDs) increases the
background risk overall for congenital malformations to 4 to 9% and
these agents may lead to abnormal renal development and MCDK.
[7]
Down serum screening with a value of inhibin A at ≥2 MoM is
associated with fetal MCDK (OR =27.5, 95% CI: 2.8-267.7). [8]
In addition, Kallmann's syndrome (anosmia and hypogonadotrophic
hypogonadism) is described in 2 siblings with unilateral MCDK. [9]
Making the correct diagnosis and obtaining post mortem studies in
lethal cases is important since the recurrence risk for MCDK is
approximately 3% compared to 25% for autosomal recessive
polycystic kidney disease (ARPKD). [10]
While familial clusters of MCKD patients are observed, formal
screening of relatives is not recommended. [11]
Other reported associations and cases reports associated with
MCKD are listed below.
Outcome Unilateral
Abnormalities were seen in the contralateral MCDK kidney in 7 of
14 patients and in 5 of 14 patients had lethal conditions. Overall
80% of the bilateral MCDK had associated non-renal abnormalities
compared to 11% of those with unilateral MCDK. [12] Others
confirm the poor prognosis with bilateral disease, while involution,
reduction or no change in renal size may be seen in cases of
unilateral MCDK. [13]
Follow up among 53 children with unilateral MCDK demonstrated
reassuring outcomes as follows over a mean follow up of 68 months
[14]:
2 with hypertension,
5 with urinary tract infection,
90% with involution of the kidney,
17% with complete involution (rate greater during first 30 months),
and contralateral progressive renal hypertrophy.
In 87% of the cases, the unilateral MCDK is non-functioning and
outcome is predicated upon renal and/or non-renal abnormalities.
[15]
Outcome Bilateral
The detection of hydronephrosis and urinary obstruction has
increased with the advent of antenatal ultrasound and the use of
prophylactic antibiotics can reduce neonatal urinary infections. [16]
The increased detection for urinary abnormalities may further
improve outcomes by allowing early evaluation, follow up and
treatment.
Since MCDK can be diagnosed accurately, an appropriate prognosis
can be rendered. Those affected with bilateral MCDK, especially
those with associated renal and/or non-renal malformations have a
relatively poor prognosis and patient counseling is based upon the
combination of findings. Severe dysplastic lesions with
oligohydramnios and the inability to detect a normal kidney or
bladder are usually lethal. [17]
Management
For those with unilateral MCKD, especially those without other renal
or non-renal abnormalities, the natural history is usually benign and
serial follow up is warranted. [18] The indications for nephrectomy
are reserved for complications such as MCDK size or when the
kidney continues to increase in size after the second year of life. [19]
Other Reported Associations with MCKD
Below is a listing of other reported associations in addition to
Meckel-Gruber ( renal cystic dysplasia, central nervous
system malformations, polydactyly, hepatic defects, pulmonary
hypoplasia due to oligohydramnios), Trisomy 13 (heart, lung
defects, CNS (holoprosencephaly), growth restriction), and Trisomy
18 (growth restriction, cardiac defects, abnormal distal extremities,
choroid plexus cysts, omphalocele).
Cystic accessory uterine cavity [20]
Caliceal diverticulum [21]
PAX2 (Paired box protein gene) mutations [22]
Seminal vesicle cyst [23]
Transcription factor 2 gene mutations [24]
VATER (vertebral defects, anal atresia, tracheo-esophageal fistula,
and renal dysplasia) [25]
Potter sequence with penile agenesis [26]
Paravertebral arteriovenous fistula [27]
Angiotensin-converting enzyme and angiotensin type 2 receptor
gene genotype [28]
Pentalogy of Cantrell ([defects involve the diaphragm, abdominal
wall, pericardium, heart and lower sternum) [29]
Neonatal Bartter syndrome with polyhydramnios.[30]
Congenital heart defects (7%) [31]
Trisomy 21[31]
Chromosome 22q11 microdeletion [32]
Trisomy X [33]
Waardenburg syndrome type 1 (varying degrees of deafness, minor
defects in structures arising from the neural crest, and pigmentation
anomalies) [34]
References
1. Eur J Pediatr Surg. 2001 Aug;11(4):246-54.
Antenatal diagnosis of Multicystic Renal Dysplasia.
Ranke A, Schmitt M, Didier F, Droulle P.
Service de Chirurgie Pédiatrique B, Hôpital d'Enfants, Vandoeuvreles-Nancy,
France.
Multicystic Renal Dysplasia (MRD) was discovered during antenatal
ultrasound
examination in 138 fetuses between 1980 and 1995. Associated
malformations were
present in 66 % (42 % urological) and 22 % of the fetuses did not
survive the
pregnancy or the peri-natal period .Anatomical analysis showed a
wider variety of
MRD than in classical descriptions. Obstruction of the urinary tract
was almost
invariable. Like the hypothesis published by Beck in 1971, our view
is that, with
a very early obstruction of the urinary tract (during the first
trimester), there
is a dysplastic evolution of renal tissue, while later in pregnancy the
same
obstruction can induce a hydronephrosis with corticomedullary
dysplasia.We advise
complete neonatal urological investigation, and surgical removal of
multicystic
kidneys, to avoid multiple and inadequate evaluations of those
children with a
single functioning renal unit.
2. Fetal Pediatr Pathol. 2008;27(6):264-73.
"Multicystic dysplastic kidney (Potter type II syndrome) and
agenesis of corpus callosum (ACC) in two consecutive pregnancies: a
possible teratogenic effect of electromagnetic exposure in utero".
Tonni G, Azzoni D, Ventura A, Ambrosetti F, De Felice C.
Prenatal Diagnostic Service, Division of Obstetrics and Gynecology,
Guastalla
Provincial Hospital-AUSL Reggio Emilia, Reggio Emilia, Italy.
Tonni.Gabriele@ausl.re.it
Agenesis of the corpus callosum is found in about 5 per 1,000 births
and it is
due to maldevelopment or, secondary, to destructive lesions.
Multicystic
dysplastic kidneys is a consequence of either developmental failure
of the
mesonephric blastema to form nephrons or to early urinary
obstruction due to
urethral or ureteric atresia and can be found in about 1 per 1,000
live births. A
case of fetal multicystic dysplastic kidney disease (Potter type II
syndrome) and
complete agenesis of the corpus callosum demonstrated by the
presence of Probst
bundles associated with colpocephaly occurring in the same mother
in her two
consecutive pregnancies is reported. Data regarding possible
teratogenetic effect
due to electromagnetic exposure in utero have also been
investigated and raised
suspicionus as a potential risk factor. In cases of suspected second
trimester
ultrasound diagnosis of agenesis of corpus callosum (ACC), the
following clinical
management should be recommended: fetal karyotype; a second
level scan with
differentiation between underlying conditions such as
hydrocephalus and
holoprosencephaly; antenatal MRI to enhance the diagnostic
accuracy of possible
associated neuronal migration (when possible); and direct
demonstration of the
presence of the Probst bundles to neurohistology.
PMID: 19065324 [PubMed - indexed for MEDLINE]
3. Ugeskr Laeger. 2006 Jun 26;168(26-32):2544-50.
[Prenatal diagnosed hydronephrosis and other urological
anomalies].
[Article in Danish]
Cortes D, Jørgensen TM, Rittig S, Thaarup J, Hansen A, Andersen KV,
Thorup J,
Jørgensen C, Søgaard K, Eskild-Jensen A, Frøkiaer J, Hørlyk A, Jensen
F; Danish
Society of Paediatrics, Committee of Nephrology and Urology;
Department of
Paediatric Surgery, Rigshospitalet, University of Copenhagen;
Danish Society of
Obstetrics and Gynaecology, Committee of Ultrasound Diagnostics;
Danish Society
of Clinical Physiology and Nuclear Medicine; Department of Clinical
Physiology
and Nuclear Medicine, Aarhus University Hospital, Skejby Sygehus;
Department of
Radiology, Aarhus University Hospital, Skejby Sygehus; Danish
Society of
Ultrasound Diagnostics; Danish Society of Radiology; Danish Society
of
Nephrology; Danish Society of Urology.
H:S Rigshospitalet, Børnekirurgisk Afdeling.
dinacortes@hotmail.com
By renal ultrasound examination, urological anomalies may be
demonstrated in 1-2%
of fetuses and in about 0.5% of newborns. Boys have about twice the
frequency of
girls. Surgical treatment is indicated in about one fourth of these
urological
anomalies. If all pregnant women in Denmark were to have fetal
ultrasound
examination of the kidneys and the urinary tract, about 70 children
would be born
each year with a prenatally diagnosed urological anomaly for which
surgical
procedure is or will be indicated. This paper provides Danish
guidelines for
prenatal diagnosis, follow-up and intervention in cases of urological
anomalies
and guidelines for post-natal diagnosis, follow-up and treatment of
these
anomalies, especially hydronephrosis.
PMID: 16824408 [PubMed - indexed for MEDLINE]
4 J Obstet Gynaecol Res. 1996 Dec;22(6):569-73.
A study on fetal urinary tract anomaly: antenatal ultrasonographic
diagnosis and postnatal follow-up.
Kim EK, Song TB.
Department of Diagnostic Radiology, Chosun University Medical
School, Kwangju,
Korea.
OBJECTIVE: To evaluate the incidence, associated anomalies, and
the type of
congenital urinary tract anomaly and to know the cause of
congenital
hydronephrosis.
METHODS: In 4.5 years, 5,442 fetuses had ultrasonography and 48
cases of fetal
urinary tract anomaly were detected. Ultrasonogram was done after
delivery with
further examination as necessary.
RESULTS: The incidence of all types of anomaly was 4.3%
(236/5,442) and the
incidence of urinary tract anomaly was 0.9% (48/5,442, 8.8/1,000
births) of all
babies born and 20.3% (48/236) of entire anomaly. Types of
urinary tract anomaly
were as follows; hydronephrosis (37 cases), multicystic dysplastic
kidney (5
cases), polycystic kidney disease (2 cases), renal agenesis (2 cases),
ectopic
kidney (1 case) and hypoplastic kidney (1 case). Associated
anomalies were found
in 8 cases (16.7%) among 48. Causes of hydronephrosis were
ureteropelvic
obstruction in 13 cases, ureterovesical obstruction in 4 cases,
vesicoureteral
reflux in 2 cases, proximal ureteral obstruction in 2 cases, and no
specific
causes in 16 cases.
CONCLUSIONS: Antenatal ultrasonography is a very useful
diagnostic tool in the
detection of urinary tract anomaly and a careful search for other
anomalies is
indicated when urinary tract anomaly is found.
PMID: 9037946 [PubMed - indexed for MEDLINE]
5.Prenat Diagn. 1999 May;19(5):418-23.
Insights into the pathogenesis and natural history of fetuses with
multicystic dysplastic kidney disease.
Lazebnik N, Bellinger MF, Ferguson JE 2nd, Hogge JS, Hogge WA.
Department of Genetics, Magee-Womens Hospital, Pittsburgh, PA
15213, USA.
To better delineate the natural history of multicystic displastic
kidney disease
(MCDKD) and provide insights into the pathogenesis of this
condition, we report
our experience in 102 prenatally detected cases. MCDKD is most
commonly an
incidental finding on prenatal ultrasound examination. The
abnormality may be
unilateral (76 per cent) or bilateral (24 per cent). In unilateral cases,
abnormality of the contralateral kidney is common (33 per cent).
Associated
non-renal abnormalities occur frequently with both unilateral (26
per cent) and
bilateral (67 per cent) MCDKD, and increase the risk for an
abnormal chromosome
study. Males are more likely to be affected than females with a ratio
of 2.4:1,
but females are twice as likely to have bilateral MCDKD and
associated non-renal
abnormalities, and four times more likely to have an abnormal
chromosome study.
We suggest that the option of chromosomal analysis should be
discussed with all
patients diagnosed with MCDKD in their fetus, if there is bilateral
renal
involvement or if an associated non-renal abnormality is present.
Unilateral
MCDKD without associated renal or non-renal abnormalities was
not associated with
an abnormal chromosome study, and resulted in favourable
outcomes. While
unilateral MCDKD, lack of associated anomalies, normal
chromosome study and
adequate amniotic fluid are all reassuring findings, a complete
neonatal urologic
work-up should be performed in all newborns. We believe the
evaluation should
include voiding cystourethrography to rule out vesicoureteral
reflux. Our
findings allow more precise counselling of patients regarding
prognosis, and
subsequent management of the fetus found to have MCDKD.
PMID: 10360509 [PubMed - indexed for MEDLINE]
6. Hinyokika Kiyo. 1994 Nov;40(11):1009-12.
[Prenatally diagnosed bilateral multicystic dysplastic kidneys
associated with
multiple anomalies: a case report].
[Article in Japanese]
Kawakita M, Arai Y, Takeuchi H, Yoshida O, Tsuruta Y, Ida K.
Department of Urology, Faculty of Medicine, Kyoto University.
A case of bilateral multicystic dysplastic kidneys with multiple
anomalies is
reported. Prenatal ultrasonography showed oligohydramnios, atrial
septal defect,
bilateral multicystic kidneys, omphalocele, and bowel dilatation. A
male baby
died of respiratory insufficiency immediately after premature
delivery. Autopsy
showed multiple anomalies of face, fingers, lung, heart, bowels, and
genitourinary tract. Seven more cases with urinary tract anomalies
prenatally
detected by ultrasonography are also reported. Ultrasonography is
useful to
diagnose anomalies of fetus.
PMID: 7832072 [PubMed - indexed for MEDLINE]
7. Pediatr Nephrol. 2007 Jul;22(7):1054-7. Epub 2007 Feb 20.
Unilateral multicystic dysplastic kidney in infants exposed to
antiepileptic
drugs during pregnancy.
Carta M, Cimador M, Giuffrè M, Sergio M, Di Pace MR, De Grazia E,
Corsello G.
UTIN e Pediatria, Università di Palermo, Palermo, Italy.
mauriziocarta@yahoo.it
Prenatal exposure to antiepileptic drugs (AEDs) increases the risk of
major
congenital malformations (MCM) in the fetus. AED-related
abnormalities include
heart and neural tube defects, cleft palate, and urogenital
abnormalities. Among
the various congenital anomalies of the kidney and urinary tract
(CAKUT),
multicystic dysplastic kidney (MCDK) disease is one of the most
severe
expressions. Although prenatal ultrasound (US) examination has
increased the
prenatal diagnosis of MCDK, the pathogenesis is still unclear. We
report on four
cases of MCDK in infants of epileptic women treated with AEDs
during pregnancy.
From October 2003 to June 2006, we observed four infants with
unilateral MCDK
born to epileptic women. Three patients were considered to have
typical features
of multicystic dysplastic kidney, and one infant was operated
because of a cystic
pelvic mass in the absence of a kidney in the left flank. The
macroscopic
appearance of this mass showed an ectopic multicystic kidney
confirmed by
histological findings. All patients have been studied by US scans,
voiding
cystourethrogram (VCUG), and radionuclide screening isotope
imaging. The prenatal
exposure to AEDs increases the risk of major congenital
malformations from the
background risk of 1-2% to 4-9%. AEDs may determine a defect in
apoptosis
regulation that could lead to abnormal nephrogenesis, causing
MCDK. Carbamazepine
(CBZ) and phenobarbital (PHB) during pregnancy should be used at
the lowest
dosage compatible with maternal disease. The reduction, or even
suspension, of
drug dosage should be achieved from the periconceptional period to
the first 8
weeks of gestation to avoid any interference with organogenesis.
PMID: 17310358 [PubMed - indexed for MEDLINE]
8. Prenat Diagn. 2008 Dec;28(13):1204-8.
Down syndrome serum screening also identifies an increased risk
for multicystic
dysplastic kidney, two-vessel cord, and hydrocele.
Hoffman JD, Bianchi DW, Sullivan LM, Mackinnon BL, Collins J,
Malone FD, Porter
TF, Nyberg DA, Comstock CH, Bukowski R, Berkowitz RL, Gross SJ,
Dugoff L, Craigo
SD, Timor-Tritsch IE, Carr SR, Wolfe HM, D'Alton ME.
Tufts Medical Center, Boston, MA 02111, USA.
OBJECTIVE: The FASTER trial compared first and second trimester
screening methods
for aneuploidy. We examined relationships between maternal serum
markers and
common congenital anomalies in the pediatric outcome data set of
36 837 subjects.
METHODS: We used nested case-control studies, with cases defined
by the most
common anomalies in our follow-up database, and up to four
controls matched by
enrollment site, maternal age and race, enrollment gestational age,
and infant
gender. Serum markers were dichotomized to > or = 2 or < 0.5
multiples of the
median (MoM). Odds ratios (ORs) and 95% confidence intervals (CI)
were estimated.
RESULTS: Statistically significant (p < 0.05) associations were found
between
inhibin A > or = 2 MoM with fetal multicystic dysplastic kidney
(MCDK) (OR =
27.5, 95% CI: 2.8-267.7) and two-vessel cord (OR = 4.22, 95%
CI:1.6-10.9); hCG of
> or = 2 MoM with MCDK (OR = 19.56, 95% CI: 1.9-196.2) and
hydrocele (OR = 2.48,
95% CI: 1.3-4.6); and PAPP-A > or = 2.0 MoM with hydrocele (OR =
1.88, 95%
CI:1.1-3.3).
CONCLUSION: In this large prospective study, significant
associations were found
between several maternal serum markers and congenital anomalies.
This suggests
potential additional benefits to screening programs that are
primarily designed
to detect aneuploidy.
PMCID: PMC2610242
PMID: 19034930 [PubMed - indexed for MEDLINE]
9. Nephrol Dial Transplant. 2001 Jun;16(6):1170-5.
Multicystic dysplastic kidney and Kallmann's syndrome: a new
association?
Deeb A, Robertson A, MacColl G, Bouloux PM, Gibson M, Winyard PJ,
Woolf AS,
Moghal NE, Cheetham TD.
Department of Child Health, The Royal Victoria Infirmary,
Newcastle-upon-Tyne NE1
4LP, UK.
BACKGROUND: Kallmann's syndrome is characterized by anosmia
and hypogonadotrophic
hypogonadism. Radiographic studies of teenagers and older subjects
with the
X-linked form of the syndrome have shown that up to 40% have an
absent kidney
unilaterally. Although this has been attributed to renal "agenesis", a
condition
in which the kidney fails to form, little is known about the
appearance of the
developing urinary tract either pre- or post-natally in individuals
with
Kallmann's syndrome.
METHODS: We describe two brothers who had features of
Kallmann's syndrome, most
probably of the X-linked variety, who both had a major urinary-tract
malformation
detected before birth.
RESULTS: The brothers were found to have unilateral multicystic
dysplastic
kidneys on routine antenatal ultrasound scanning and both
underwent surgical
nephrectomy of these organs post-natally. Immunohistochemical
studies on the
younger sibling revealed hyperproliferative dysplastic kidney
tubules which
overexpressed PAX2, a potentially oncogenic transcription factor,
and BCL2, a
cell-survival factor, surrounded by metaplastic, alpha smoothmuscle
actin-positive stroma: similar patterns have been observed in
patients with
non-syndromic multicystic dysplastic kidneys.
CONCLUSIONS: Our results describe a new type of urinary-tract
malformation
associated with Kallmann's syndrome. However, since multicystic
kidneys tend to
involute, only when more Kallmann's syndrome patients are
screened in utero or in
early childhood using structural renal scans, will it be possible to
establish
whether multicystic kidney disease is a bona-fide part of the
syndrome.
PMID: 11390716 [PubMed - indexed for MEDLINE]
10. J Perinatol. 2008 Nov;28(11):736-42. Epub 2008 Jul 3.
Post-mortem examination of prenatally diagnosed fatal renal
malformation.
Kumari N, Pradhan M, Shankar VH, Krishnani N, Phadke SR.
Department of Pathology, Sanjay Gandhi Post-Graduate Institute of
Medical
Sciences, Lucknow, UP, India.
OBJECTIVE: Renal malformations can be associated with genetic
syndromes and
chromosomal disorders. Fetal autopsy including histopathological
examination of
kidney is important to arrive at definite diagnosis. The objective was
to assess
importance of fetal autopsy and histopathology.
STUDY DESIGN: Retrospective analysis of cases with fetal renal
malformations was
done. All fetuses terminated were examined with whole body
radiograph, external
and internal examination and histopathological examination.
RESULT: A total of 21 cases with renal malformations were studied.
Of all 3 were
of bilateral renal agenesis, 4 showed autosomal recessive polycystic
kidney
disease and 13 showed features of multicystic kidney. Three of these
had
hyperplasic-enlarged bladder and autopsy confirmed urorectal
septum malformations
in two cases and posterior urethral valve in one case. One case had
associated
malformations like encephalocele that suggested diagnosis of
Meckel-Gruber
syndrome and another had associated lateral body wall defect. In
five cases
kidney was hypoplastic suggestive of Potter type IIa.
CONCLUSION: Ultrasound is an effective diagnostic modality;
however fetal autopsy
after termination of pregnancy is important to arrive at a definitive
diagnosis.
It's important to distinguish between autosomal recessive polycystic
kidney
disease (ARPKD) and cystic dysplastic kidney as recurrence risk is
3% in case of
cystic renal dysplasia in contrast to 25% in case of ARPKD. Gross
examination may
point toward syndromic diagnosis like Meckel-Gruber syndrome;
hence mode of
prenatal diagnosis may vary in subsequent pregnancies.
PMID: 18596710 [PubMed - indexed for MEDLINE]
11. J Urol. 2002 Feb;167(2 Pt 1):666-9.
A family study and the natural history of prenatally detected
unilateral multicystic dysplastic kidney.
Belk RA, Thomas DF, Mueller RF, Godbole P, Markham AF, Weston
MJ.
Departments of Pediatric Urology, Clinical Genetics, Molecular
Medicine and
Radiology, The Leeds Teaching Hospitals, Leeds, Great Britain.
PURPOSE: We document the inheritance pattern of multicystic
dysplastic kidney in
3 affected families and screen first-degree relatives of a cohort of
children
with prenatally detected multicystic dysplastic kidney for renal
anomalies. The
study also afforded an opportunity to document the natural history
of prenatally
detected multicystic dysplastic kidney.
MATERIALS AND METHODS: We identified 3 families during clinical
treatment of
children with prenatally detected multicystic dysplastic kidneys.
Other members
of these families were evaluated with renal ultrasonography. For the
family
screening study index cases were identified from a fetal uropathy
database. A
total of 94 first-degree relatives (52 parents, 35 full siblings and 7
half
siblings) of 29 children with prenatally detected multicystic
dysplastic kidneys
were studied with urinary tract ultrasonography, blood pressure
measurement,
urinalysis and plasma biochemistry.
RESULTS: Two families had affected sibling pairs, 1 of which also
had a half
sibling with vesicoureteral reflux. The third family included 3
individuals with
multicystic dysplastic kidney and 1 with renal agenesis thought to
have resulted
from involution of multicystic dysplastic kidney. This family is
consistent with
autosomal dominant inheritance with variable expressivity and
reduced penetrance.
In the screening study ultrasonography did not demonstrate
significant renal
anomalies in any of the 94 first-degree relatives of the multicystic
dysplastic
kidney index cases. Followup assessment of prenatally detected
multicystic
dysplastic kidneys in index cases demonstrated total involution in
52% at a
median age of 6.5 years with no multicystic dysplastic kidney
related morbidity.
CONCLUSIONS: Multicystic dysplastic kidney can be familial but is
most commonly a sporadic anomaly. Formal screening of relatives is
not recommended. Followup data on a cohort of children with
prenatally detected multicystic dysplastic kidney add further
support to conservative management.
PMID: 11792949 [PubMed - indexed for MEDLINE]
12. Prenat Diagn. 1990 Mar;10(3):175-82.
Multicystic dysplastic kidney: natural history of prenatally detected
cases.
Dungan JS, Fernandez MT, Abbitt PL, Thiagarajah S, Howards SS,
Hogge WA.
Department of Obstetrics and Gynecology, University of Virginia
Health Sciences
Center, Charlottesville 22908.
To delineate the natural history of fetal multicystic dysplastic
kidneys (MDKs),
all cases that were prenatally detected in the Prenatal Diagnosis
Center of the
University of Virginia from September 1985 to 31 August 1988 were
reviewed. All
patients were followed through the Center with serial ultrasound
evaluations at
approximately 4-week intervals, and each liveborn infant was
evaluated and
followed by one of the authors (S.S.H.). Of the 14 cases detected, ten
were
detected in the second trimester, the earliest at 16.5 weeks'
gestation. Of the
nine fetuses with non-lethal disease, there were two cases in which
the lesion
remained unchanged during observation. Both had an initial
diagnosis in the third
trimester. In those cases diagnosed in the second trimester (7), all
showed an
initial increase in the size and number of cysts, followed by
involutional
changes either in utero (2) or in the neonatal period (3). Two infants
had
immediate surgical removal of the MDK, one because of respiratory
compromise, and
the other because of an uncertain diagnosis on renal scan.
Abnormalities of the
contralateral kidney were found in 7 of 14 fetuses. Five were lethal
conditions.
Associated non-renal abnormalities were common in bilateral MDK
(80 per cent),
but rare in unilateral MDK (11 per cent).
PMID: 2188249 [PubMed - indexed for MEDLINE]
13. Zhonghua Yi Xue Za Zhi. 2007 Jun 5;87(21):1491-2.
[Ultrasonic diagnosis and prognosis of fetal multicystic kidney
dysplasia].
[Article in Chinese]
Hu WS, He J, Shen YM, Cai SP, Lu H.
Women's Hospital Zhejiang Universty Medical College, Hangzhou
310006, China.
OBJECTIVE: To explore the diagnosis, clinical course and prognosis
of fetal multicystic kidney dysplasia (MCDK).
METHODS: 24 858 pregnant women detected by prenatal
ultrasound, here were 41 cases with fetal multicystic kidney
dysplasia, these fetuses were diagnosed at average 29.8 weeks of
gestation, Carried on an observation to fetuses with
multicystic kidney dysplasia and postnatal follow-up study.
RESULTS: T17 cases were induced abortion. Of 13 infants, 1 case
involute, 3 cases decrease, 9 cases no change.
CONCLUSION: Prenatal ultrasonography can actual diagnosis for
fetal Multicystic kidney dysplasia, the key of management of
multicystic kidney dysplasia is assessment of fetal prognosis, the
natural history of unilateral MCDK is usually
benign, the affected kidneys tend to show involution after birth. But
bilateral MCDK often associated with impairement of renal function,
abnormal chromosome or other anomalies, which indicates a poor
prognosis.
PMID: 17785090 [PubMed - indexed for MEDLINE]
14. J Pediatr (Rio J). 2005 Sep-Oct;81(5):400-4.
[Conservative management of multicystic dysplastic kidney: clinical
course and
ultrasound outcome].
[Article in Portuguese]
Rabêlo EA, Oliveira EA, Silva JM, Bouzada MC, Sousa BC, Almeida
MN, Tatsuo ES.
Unidade de Nefrologia Pediátrica, Departamento de Cirurgia,
Hospital das
Clinicas, Universidade Federal de Minas Gerais (UFMG), Belo
Horizonte, MG,
Brazil.
OBJECTIVE: The aim of this study was to describe the clinical course
and
ultrasound outcome of prenatally detected multicystic dysplastic
kidney.
METHODS: Fifty-three children with unilateral multicystic
dysplastic kidney
detected by prenatal ultrasound between 1989 and 2004 were
included in the
analysis. All children were submitted to conservative management
with follow-up
visits every six months. Follow-up ultrasound examinations were
performed at
six-month intervals during the first two years of life and yearly
thereafter. The
following clinical parameters were evaluated: blood pressure,
urinary tract
infection, renal function, and growth. The following ultrasound
parameters were
evaluated: involution of multicystic dysplastic kidney and
contralateral renal
growth.
RESULTS: The mean follow-up time was 68 months. Two children
presented
hypertension during follow-up and five had urinary tract infection
(only one with
recurrent episodes). There was no malignant degeneration of
multicystic
dysplastic kidney. A total of 334 ultrasound scans were analyzed. US
scan
demonstrated involution of the multicystic dysplastic kidney in 48
(90%) cases,
including complete involution in nine (17%). The involution rate
was faster in
the first 30 months of life. There was progressive compensatory
renal hypertrophy
of the contralateral renal unit; the rate of growth was greater in the
first 24
months of life.
CONCLUSION: The results of prolonged follow-up of children with
conservatively
managed multicystic dysplastic kidney suggest that clinical
approach is safe, the
incidence of complications is small, and that there is a clear
tendency for
multicystic dysplastic kidney to decrease in size. Our data also
suggest that the
involution rate of multicystic dysplastic kidney as well as the growth
of the
contralateral kidney is greater in the first 24 months of life.
PMID: 16247543 [PubMed - indexed for MEDLINE]
15. Ultrasound Obstet Gynecol. 2002 Feb;19(2):180-3.
Unilateral multicystic dysplastic kidney: a combined pre- and
postnatal assessment.
van Eijk L, Cohen-Overbeek TE, den Hollander NS, Nijman JM,
Wladimiroff JW.
Department of Obstetrics and Gynaecology, University Hospital
Rotterdam Dijkzigt,
Rotterdam, The Netherlands.
OBJECTIVE: To review the prenatal assessment of associated renal
pathology,
non-renal pathology and renal biometry, fetal outcome and
postnatal urological
management in the presence of unilateral fetal multicystic
dysplastic kidney.
METHODS: A total of 38 singleton pregnancies with fetal unilateral
multicystic
dysplastic kidney was studied over a 13-year period. Prenatally,
fetal biometry,
including head and abdominal circumferences and largest
longitudinal diameter of
the affected and contralateral kidneys, was performed. The amount
of amniotic
fluid was assessed. Fetal karyotyping was offered in cases of
contralateral renal
or non-renal pathology. A MAG 3 scan and voiding cystogram was
performed
approximately 4 weeks after delivery to establish renal function and
to exclude
urinary reflux.
RESULTS: Unilateral fetal multicystic dysplastic kidney was leftsided in 53% and
right-sided in 47% of cases. The fetus was male in 63% and female
in 37% of
cases. Associated renal and non-renal pathology existed in 21% and
5% of cases,
respectively. The fetal karyotype in these subsets was always
normal. The
longitudinal diameter of the multicystic dysplastic kidney was above
the 95th
centile in 87%. There was polyhydramnios in three cases and
oligohydramnios in
two cases. The prematurity rate was 16%. Postnatal examination
revealed a
non-functional multicystic kidney in 87% (33/38) of cases.
Following surgical
removal of the affected kidney, these infants progressed normally.
Of the
remaining five infants, four died because of associated anomalies
and one infant
developed normally without surgery.
CONCLUSIONS: Fetal outcome is determined by associated renal
and/or non-renal
structural pathology and not by the size/location of the unilateral
multicystic
dysplastic kidney or amniotic fluid volume.
PMID: 11876812 [PubMed - indexed for MEDLINE]
16 J Clin Ultrasound. 1988 Jul-Aug;16(6):436-9.
Urol Radiol. 1989;11(4):217-20.
What's new in pediatric uroradiology.
Preston A, Lebowitz RL.
Department of Radiology, Children's Hospital, Boston,
Massachusetts 02115.
The diagnosis and treatment of infants and children with urinary
tract
abnormalities have recently been affected by three developments.
First,
hydronephrosis can be detected in the fetus on obstetrical
ultrasonography.
Prenatal detection has resulted in a marked increase in the number
of neonates
referred for uroradiologic evaluation. Ureteropelvic junction (UPJ)
obstruction,
ureterovesical junction obstruction (UVJ), and reflux have been
found to be the
most common causes of hydronephrosis. Prophylactic antibiotics
begun soon after
delivery can prevent infection and its sequelae. Second, multicystic
dysplastic
kidney can now be accurately diagnosed preoperatively by a
combination of
ultrasonography and renal scintigraphy. This diagnostic certainty
makes the
decision to remove such a kidney a philosophical one. Third, it has
been learned
that reflux is sometimes familial. Nuclear cystography is an accurate
and
efficient method for screening asymptomatic family members.
PMID: 2692270 [PubMed - indexed for MEDLINE]
17. JAMA. 1981 Aug 7;246(6):635-9.
Management of the fetus with a urinary tract malformation.
Harrison MR, Filly RA, Parer JT, Faer MJ, Jacobson JB, de Lorimier
AA.
Obstetric sonography revealed urinary tract malformations in 13
fetuses. Six had
severe dysplastic lesions incompatible with postnatal life; in all six,
oligohydramnios and inability to detect normal kidney or bladder
allowed
appropriate counseling and management. Four fetuses had
unilateral lesions (three
hydronephrotic, one multicystic); all had evidence of adequate
contralateral
function and were successfully treated after delivery near term.
Three fetuses
had bilateral hydronephrosis secondary to urethral obstruction. The
two who were
born near term died of hypoplastic lungs, end-stage hydronephrosis,
and facial
and skeletal deformities. The other, electively delivered at 32 weeks,
had none
of the stigmata of Potter's syndrome, and early decompression
salvaged sufficient
renal function for survival. Prenatal sonographic assessment of
urinary tract
anatomy and function can improve perinatal management. The fetus
with
hydronephrosis may benefit from early decompression.
PMID: 7253115 [PubMed - indexed for MEDLINE]
18. Pediatr Surg Int. 2001;17(1):54-7.
Multicystic dysplastic kidney detected by fetal sonography:
conservative management and follow-up.
Oliveira EA, Diniz JS, Vilasboas AS, Rabêlo EA, Silva JM, Filgueiras
MT.
Department of Pediatric Nephrology, Hospital das Clínicas, Federal
University of
Minas Gerais, Belo Horizonte, Brazil.
The most common cystic lesion recognized antenatally is multicystic
dysplastic
kidney (MCDK). Recently, conservative management without
nephrectomy has been
advocated. The purpose of this study was to report our experience
in the
conservative management of unilateral MCDK. Between 1989 and
1997, 20 children
with MCDK detected by prenatal ultrasonography (US) were
prospectively followed.
At birth, US confirmed the prenatal findings in all cases. All patients
were
submitted to radioisotope scans and a micturating cystogram.
Follow-up US
examinations were performed annually. Mean age at diagnosis
during the prenatal
period was 31 weeks of gestation (range 24-38). Median follow-up
time was 33
months (range 7-91). Follow-up US was performed in 19 children;
13 (68%) showed
partial involution, 4 (21%) complete involution, and 2 (11%) an
increase in unit
size. The mean age at complete or partial involution of the lesion
was 18 months.
No children developed hypertension or tumors, and all maintained
normal growth.
In conclusion, the natural history of MCDK is usually benign, and
serial US
examinations show that affected kidneys frequently show involution
with time.
PMID: 11294270 [PubMed - indexed for MEDLINE]
19. Nihon Hinyokika Gakkai Zasshi. 1992 Oct;83(10):1628-32.
[Management of multicystic dysplastic kidney detected in perinatal
periods].
[Article in Japanese]
Tohda A, Hosokawa S, Shimada K.
Division of Urology, Osaka Medical Center.
We analyzed 17 cases of multicystic dysplastic kidney (MCDK) to
document the
natural history of MCDK and its management. One patient was
nephrectomied for
respiratory failure associated with MCDK. Follow-up studies of 14
kidneys
revealed that 5 kidneys (36%) did not change in size, 7 kidneys
(50%) decreased
in size. Two kidneys (14%) increased in size during the follow up
periods and
were nephrectomized. Hypertension and malignancy was not
observed in our cases.
Evaluations for the contralateral kidney and urinary tract system
were performed
in 15 patients and 5 (33%) revealed abnormalities--two patients
with VUR, 1 with
PUJ stenosis, 1 with ureteral stricture and 1 with ectopic
ureterocele. In our
hospital, the management for MCDK is conservative in most cases.
Nephrectomy is
indicated when there are complications resulting from the size of
MCDK, or when
the kidney continues to increase in size after the second year of life.
PMID: 1434265 [PubMed - indexed for MEDLINE]
20. . Pediatr Surg Int. 2011 Aug;27(8):891-3. Epub 2010 Nov 27.
Multicystic dysplastic kidney and cystic accessory uterine cavity: a
new
prenatally diagnosed association.
Farrugia MK, Hiorns MP, Mushtaq I.
Department of Urology, Great Ormond Street Hospital for Children,
Level 7
Southwood Building, Great Ormond Street, London, WC1N 3JH, UK.
mkfarrugia@doctors.org.uk
The co-existence of renal and mullerian anomalies is wellrecognised. Multicystic
dysplastic kidneys (MCDK) are known to be associated with the
presence of genital
cysts in both males and females, but this is the first report of a
prenatally
diagnosed MCDK associated with a non-communicating cystic
uterine cavity. The
management of these abnormalities in childhood is not wellestablished.
PMID: 21113604 [PubMed - indexed for MEDLINE]
21. ANZ J Surg. 2010 Jun;80(6):470-1.
Multicystic dysplastic kidney and calyceal diverticulum - more of an
association
than a coincidence?
Raman A, Patel B, Arianayagam M, Webb NR, Farnsworth RH.
PMID: 20618213 [PubMed - indexed for MEDLINE]
22. Am J Med Genet A. 2010 Apr;152A(4):830-5.
PAX2 mutations in fetal renal hypodysplasia.
Martinovic-Bouriel J, Benachi A, Bonnière M, Brahimi N, Esculpavit
C, Morichon N,
Vekemans M, Antignac C, Salomon R, Encha-Razavi F, Attié-Bitach T,
Gubler MC.
AP-HP, Unit of Embryo-Fetal Pathology, Department of HistoEmbryology and
Cytogenetics, Necker Hospital, Paris, France.
jelena.martinovic@nck.aphp.fr
Papillorenal syndrome also known as renal-coloboma syndrome
(OMIM 120330) is an
autosomal dominant condition comprising optic nerve anomaly and
renal
oligomeganephronic hypoplasia. This reduced number of nephron
generations with
compensatory glomerular hypertrophy leads towards chronic
insufficiency with
renal failure. We report on two fetuses with PAX2 mutations
presenting at 24 and
18 weeks' gestation, respectively, born into two different sibships.
In our first
patient, termination of pregnancy was elected for anhydramnios and
suspicion of
renal agenesis in the healthy couple with an unremarkable previous
clinical
history. This fetus had bilateral asymmetric kidney anomalies
including a small
multicystic left kidney, and an extremely hypoplastic right kidney.
Histology
showed dysplastic lesions in the left kidney, contrasting with rather
normal
organization in the hypoplastic right kidney. Ocular examination
disclosed
bilateral optic nerve coloboma. The association of these anomalies,
highly
suggestive of the papillorenal syndrome, led us to perform the
molecular study of
the PAX2 gene. Direct sequencing of the PAX2 coding sequence
identified a de novo
single G deletion of nucleotide 935 in exon 3 of the PAX2 resulting in
a
frameshift mutation (c.392delG, p.Ser131Thrfs*28). In the second
family, the
presence of a maternally inherited PAX2 mutation led to a decision
for
termination of pregnancy. The 18-week gestation fetus presented
the papillorenal
syndrome including hypoplastic kidneys and optic nerve coloboma.
In order to
address the PAX2 involvement in isolated renal "disease," 18 fetuses
fulfilling
criteria were screened: 10/18 had uni- or bilateral agenesis, 6/18
had bilateral
multicystic dysplasia with enlarged kidneys, and 2/18 presented
bilateral severe
hypodysplasia confirmed on fetopathological examination. To the
best of our
knowledge, our first patient represents an unreported fetal
diagnosis of
papillorenal syndrome, and another example of the impact of
oriented
fetopathological examination in genetic counseling of the parents.
(c) 2010 Wiley-Liss, Inc.
PMID: 20358591 [PubMed - indexed for MEDLINE]
23. BJU Int. 2009 Mar;103(6):816-9. Epub 2008 Nov 25.
Dysplastic kidney and not renal agenesis is the commonly associated
anomaly in
infants with seminal vesicle cyst.
Schukfeh N, Kuebler JF, Schirg E, Petersen C, Ure BM, Glüer S.
Department of Paediatric Surgery, Hannover Medical School,
Hannover, Germany.
schukfeh.nagoud@mh-hannover.de
OBJECTIVE: To determine whether the association of seminal vesicle
cyst (SVC) and
renal anomaly in young children correlates with previously reported
cases of SVCs
in adolescent and adult patients, as congenital SVCs, although rare,
are
frequently described in association with ipsilateral renal agenesis,
mainly in
adolescent and adult patients, whereas reports on SVCs in younger
children are
sparse.
PATIENTS AND METHODS: We report on nine infants (median age 4
months) with
congenital SVCs, all of them associated with ipsilateral dysplastic
kidneys. All
patients had ultrasonography of the renal system and voiding cystourethrography.
Magnetic resonance imaging was used in two patients.
RESULTS: The SVCs were found incidentally during ultrasonography
for the renal
anomaly. Three patients had dysplastic and six had multicystic
dysplastic
kidneys. In previous reported adult cases of SVCs the most common
associated
renal anomaly was agenesis of the ipsilateral kidney (25 of 44
cases), whereas
only one case of dysplastic kidney was reported.
CONCLUSION: As the appearance of renal agenesis might result from
a former
congenital dysplastic kidney, our findings indicate that cases of
ipsilateral
renal agenesis in adult patients with congenital SVCs might
represent former
dysplastic or multicystic dysplastic kidney.
PMID: 19040535 [PubMed - indexed for MEDLINE]
24. Med Sci Monit. 2008 Jun;14(6):RA78-86.
TCF2 gene mutation leads to nephro-urological defects of unequal
severity: an
open question.
Zaffanello M, Brugnara M, Franchini M, Fanos V.
Department of Mother-Child and Biology-Genetics, University of
Verona GB Rossi
Hospital, Piazzale Lo Scuro 10, Verona, Italy.
marco.zaffanello@univr.it
There are several genes known to be involved in simple renal or
combined
renal-extrarenal aberrations. Of these, the transcription factor 2
gene is
expressed longer, from very early embryogenesis and throughout
organ development
during pregnancy. Transcription factor 2 gene encodes the
hepatocyte nuclear
factor-1 beta transcript, which is a member of the homeodomaincontaining
superfamily of transcription factors. Transcription factor 2 gene
mutations may
be associated with a wide variability in severity and pattern of
clinical
symptoms. Transcription factor 2 gene mutation may be responsible
for
approximately one-third of children having isolated renal cysts,
multicystic
dysplastic kidneys, oligomeganephronia, hypo-dysplastic kidneys,
horseshoe
kidneys, and hyperechogenic kidneys. The wide clinical presentation
of hepatocyte
nuclear factor-1 beta mutations suggests a broad role of this
transcription
factor throughout development. The complexity of phenotypes is
quite interesting
because it could depend on the vast expression time of this gene
derangement
during fetal development or on different gene-gene and geneenvironmental
interactions during different stages of embryogenesis. The current
literature is
reviewed concerning the malformations that have been associated
with
transcription factor 2 gene mutations involving primarily the
kidneys and
occurring both in an isolated form and in association with other
defective organs
to characterize the patterns of this genetic disease.
PMID: 18509286 [PubMed - indexed for MEDLINE]
25. Tohoku J Exp Med. 2007 Dec;213(4):291-5.
Prenatal diagnosis of persistent cloaca associated with VATER
(vertebral defects,
anal atresia, tracheo-esophageal fistula, and renal dysplasia).
Mori M, Matsubara K, Abe E, Matsubara Y, Katayama T, Fujioka T,
Kusanagi Y, Ito
M.
Department of Obstetrics and Gynecology, Ehime University
Graduate School of
Medicine, Toon, Japan.
The cloaca is a single canal from which the urinary, genital, and
intestinal
tracts arise around gestational weeks 5-6. Persistent cloaca can
result from
cystic mass formation within the pelvis, which is commonly
association with
multiple developmental defects. VATER association, which is a
spectrum of
anomalies, manifested by vertebral defects, anal atresia, tracheoesophageal
fistula with esophageal atresia, and renal dysplasia, arises from
abnormalities
in mesodermal differentiation. Recently, both conditions have been
proposed to
represent a continuous spectrum of anomalies, but the
pathophysiology concerning
the continuity of the development and the clinical condition are still
unclear.
Since renal failure becomes a serious problem after birth, timely
infant delivery
is essential to avoid loss of renal function. We report a patient, in
whom the
overlap between these two conditions was identified, and renal
function was lost
from one kidney. A polycystic mass was found in the fetal abdomen
at 26 weeks of
gestation. By ultrasonography, we detected a polycystic left kidney,
a single
umbilical artery, a ventricular septal defect, an esophageal atresia,
ascites, an
anal atresia, and a cystic mass with debris behind the bladder. The
left kidney
was non-functioning and the right kidney showed signs of
hydronephrosis at 30
weeks of gestation. We measured the size and the blood flow of
renal artery
sequentially, and could deliver the fetus before the function was lost
from the
right kidney. Our observations will help inform future patients
where prompt
intervention can help improve renal function and infant health.
PMID: 18075232 [PubMed - indexed for MEDLINE]
26. . Saudi Med J. 2006 Nov;27(11):1745-7.
Bilateral multicystic renal dysplasia with potter sequence. A case
with penile
agenesis.
Dursun A, Ermis B, Numanoglu V, Bahadir B, Seckiner I.
Department of Medical Genetics, ZKU Medical Faculty, Kozlu, 67600
Zonguldak,
Turkey. dursuna@karaelmas.edu.tr
Comment in
Saudi Med J. 2007 Jul;28(7):1150; author reply 1150.
Hereditary renal adysplasia (HRA) is a rare autosomal dominant
condition.
Patients have several other anomalies including Potter facies,
thoracic, cardiac,
and extremity deformities. The case present dysmorphic facial
features such as
hypertelorism, prominent epicanthic folds, a flat and broad nose,
choanal
stenosis, low-set ears, and a receding chin. He had femoral bowing,
hypoplastic
right tibia and agenesis of the right foot. He had rich and thick skin.
He had
also a dysplastic empty scrotum, penile agenesis, and anal atresia.
The autopsy
revealed pulmonary hypoplasia, ventricular septal defect, bilateral
multicystic
renal dysplasia, agenesis of both ureter and bladder, intraabdominal
testicles,
and a single umbilical artery. The penile agenesis was first reported,
and
including the consanguinity in the parents might further delineate
the bilateral
multicystic HRA. Vater/caudal regression anomalies, Mullerian
duct/aplasia,
unilateral renal agenesis, and cervicothoracic somite anomalies
association, and
Coloboma, heart anomaly, choanal atresia, retardation, genital and
ear anomalies
syndrome has been considered in differential diagnosis.
PMID: 17106555 [PubMed - indexed for MEDLINE]
27. J Pediatr Surg. 2006 Mar;41(3):e21-3.
Congenital paravertebral arteriovenous fistula: a case report.
Fotso A, Aubert D, Saltoun K, Galli G, Bonneville JF, Bracard S.
Department of Pediatric Surgery, Saint Jacques Hospital, University
of Besançon,
25000 Besançon, France.
Congenital paraspinal arteriovenous fistulae are rare and usually
diagnosed after
neurologic or cardiovascular manifestations. They may be
discovered unexpectedly
in children during clinical examination, which reveals the presence
of a vascular
murmur. The association with multicystic kidney is exceptional. We
report 1 case
with thoracic localization of a congenital paraspinal arteriovenous
fistula
associated with a multicystic kidney in a 3-year-old boy who was
treated by
endovascular embolization.
PMID: 16516609 [PubMed - indexed for MEDLINE]
28. Pediatr Res. 2004 Dec;56(6):988-93. Epub 2004 Oct 6.
Angiotensin-converting enzyme and angiotensin type 2 receptor
gene genotype
distributions in Italian children with congenital uropathies.
Rigoli L, Chimenz R, di Bella C, Cavallaro E, Caruso R, Briuglia S, Fede
C,
Salpietro CD.
Department of Pediatrics, Genetics Unit, University School of
Medicine, Messina,
Italy. luciana.rigoli@unime.it
Angiotensin I-converting enzyme (ACE) and angiotensin type 2
receptor (AT2R) gene
polymorphisms have been associated with an increased incidence of
congenital
anomalies of the kidney and urinary tract (CAKUT). We investigated
the genotype
distribution of these polymorphisms in Italian children with CAKUT.
We also
evaluated the association between the ACE insertion/deletion and
the AT2R gene
polymorphisms with the progression of renal damage in subgroups
of CAKUT
patients. We recruited 102 Italian children with CAKUT; 27 with
vesicoureteral
reflux; 12 with hypoplastic kidneys; 20 with multicystic dysplastic
kidneys; 13
with ureteropelvic junctions stenosis/atresia; 18 with
nonobstructed,
nonrefluxing primary megaureters; and 12 with posterior urethral
valves and
compared them with 92 healthy control subjects. ACE and AT2R
gene polymorphisms
were analyzed by PCR. The identification of AT2R gene
polymorphisms in intron 1
and in exon 3 was revealed by enzymatic digestion. ACE genotype
distribution in
children with CAKUT was no different from that of the control
subjects, but the
subgroup of patients with radiographic renal parenchymal
abnormalities showed an
increased occurrence of the D/D genotype. The frequency of the G
allele of AT2R
gene in children with CAKUT was increased in respect to that of the
control
subjects. By contrast, no significant difference in the frequency of
the C and A
alleles of the AT2R gene was found. Our findings indicate that the
ACE gene can
be a risk factor in the progression of renal parenchymal damage in
CAKUT
patients. Moreover, a major role of the AT2R gene in the
development of CAKUT has
been found, at least in Italian children.
PMID: 15470205 [PubMed - indexed for MEDLINE]
29. Minerva Ginecol. 2003 Aug;55(4):363-6.
[Pentalogy of Cantrell: first trimester prenatal diagnosis and
association with
multicistic dysplastic kidney].
[Article in Italian]
Pollio F, Sica C, Pacilio N, Maruotti GM, Mazzarelli LL, Cirillo P,
Votino C, Di
Francesco D.
Dipartimento di Scienze Ostetrico-Ginecologiche, Urologiche e
Medicina della
Riproduzione, Università degli Studi di Napoli Federico II, Napoli,
Italy.
Pentalogy of Cantrell is a rare congenital anomaly consisting of the
following
features: 1) midline supraumbilical abdominal wall defects; 2)
deficiency of the
anterior diaphragm; 3) defects in the diaphragmatic pericardium; 4)
defects of
the lower sternum; 5) congenital intracardiac defects. We report 3
cases of
pentalogy of Cantrell diagnosed respectively at 13, 18 and 24 weeks
of gestation.
In case 1 Cantrell's pentalogy was diagnosed during the 1(st)
trimester. Case 2
revealed the coexistence of cystic hygroma. Case 3 showed an
association with
dysplastic left kidney and mild pyelectasis of the right kidney. Our
results
confirm the possibility of an early detection of Cantrell's pentalogy
and reveal
the possibility of associations with other pathological findings.
PMID: 14581862 [PubMed - indexed for MEDLINE]
30. Pediatr Nephrol. 2003 Apr;18(4):391-3. Epub 2003 Feb 7.
Neonatal Bartter syndrome with unilateral multicystic dysplastic
kidney disease.
Tomimatsu T, Fukuda H, Kanzaki T, Hirano S, Wada K, Murata Y.
Department of Obstetrics and Gynecology, Osaka University Faculty
of Medicine,
2-2, Yamada-oka, Suita, 565-0871, Osaka, Japan.
tomimatu@gyne.med.osaka-u.ac.jp
Neonatal Bartter syndrome is characterized by antenatal
presentation with
polyhydramnios. In this paper, we report a case of neonatal Bartter
syndrome
associated with unilateral multicystic dysplastic kidney disease. To
our
knowledge, this is the first case report of such an association.
PMID: 12700968 [PubMed - indexed for MEDLINE]
31. Prenat Diagn. 2002 May;22(5):388-94.
Prenatal diagnosis of apparently isolated unilateral multicystic
kidney:
implications for counselling and management.
Aubertin G, Cripps S, Coleman G, McGillivray B, Yong SL, Van Allen
M, Shaw D,
Arbour L.
Department of Medical Genetics, University of British Columbia,
British
Columbia's Children's and Women's Hospital, Vancouver, Canada.
Cases where initial prenatal diagnosis was made of isolated
unilateral
multicystic kidney (UMCK) were reviewed to determine appropriate
counselling and
management strategies. For the 73 cases, chromosome
abnormalities, pregnancy
complications and family histories were reviewed. In addition,
subsequently
diagnosed birth defects, and pediatric medical and surgical
outcomes were
available for 54 cases. Of those with outcome information available
renal/genital-urinary tract abnormalities were diagnosed
subsequently in 33% and
non-renal abnormalities in 16% of cases. Of the non-renal
abnormalities,
congenital heart defects were most frequent (7%). One chromosome
abnormality, a
trisomy 21, was present among 32 cases where karyotypes were
known (3%). Amniotic
fluid volume abnormalities were present in 11 cases but not
predictive of
associated anomalies, with the exception of one case where
polyhydramnios
accompanied multiple malformations consistent with VATER
association. A family
history of structural renal anomalies was reported in 11 cases
(20%). There were
14 cases of partial or complete involution (25%), including two
cases of complete
prenatal involution of the cystic kidneys. No long-term associated
morbidity such
as hypertension or malignancy was present in our cohort. Based on
our study and
corroborating literature, amniocentesis should be offered to women
when a
seemingly isolated UMCK is detected on routine prenatal
ultrasound. Furthermore,
a detailed ultrasound with careful assessment of the fetal heart and
contralateral kidney is indicated at diagnosis and during the third
trimester to
assess for further evidence of structural abnormalities, as well as
amniotic
fluid volume abnormalities. Careful assessment of the newborn is
indicated with
appropriate speciality referral as required.
Copyright 2002 John Wiley & Sons, Ltd.
PMID: 12001193 [PubMed - indexed for MEDLINE]
32. Teratology. 1999 Jan;59(1):20-2.
Increased incidence of renal anomalies in patients with
chromosome 22q11
microdeletion.
Stewart TL, Irons MB, Cowan JM, Bianchi DW.
Department of Obstetrics and Gynecology, New England Medical
Center, Boston,
Massachusetts, USA.
A well-known association exists between the presence of a
chromosome 22q11
micro-deletion and conotruncal heart malformations. Recently,
there has been an
increased appreciation of the expanded clinical phenotype
associated with this
chromosome abnormality. We performed a medical record review
to evaluate the
incidence of renal anomalies in a group of 15 patients ascertained in
a single
medical center over a 33-month period. Of the 15 patients, 13 had a
renal
sonogram performed. Five of 13 patients studied (38.4%) had a
renal anomaly. The
specific abnormalities identified included: bilateral duplex kidneys
(1 patient),
unilateral renal agenesis (1 patient), unilateral multicystic
dysplastic kidneys
(2 patients, including 1 ascertained prenatally), and bilateral,
extremely small
(less than 2 SD below mean) kidneys (1 patient). The incidence of
renal anomalies
in our patient population (38.4%) was higher than expected, and
agrees with a
recent European collaborative study. The present report and the
European study
both demonstrate a higher percentage of renal abnormalities than
the 10%
previously reported in the literature. Because patients affected with
chromosome
22q11 micro-deletion often have multiple medical and surgical
problems, we
recommend obtaining a baseline renal ultrasound examination to
identify renal
anomalies before they become symptomatic.
PMID: 9988879 [PubMed - indexed for MEDLINE]
33. Pediatr Dev Pathol. 1999 Jan-Feb;2(1):58-61.
Case report of a 22-week fetus with 47,XXX karyotype and multiple
lower
mesodermal defects.
Hoang MP, Wilson KS, Schneider NR, Timmons CF.
Department of Pathology, University of Texas Southwestern Medical
Center, Dallas,
USA.
A 22-week stillborn fetus with 47,XXX karyotype had lower
mesodermal defects
consisting of irregular fusion of the sacral vertebrae, anal agenesis,
multicystic dysplasia of a horseshoe kidney, a single umbilical
artery,
dysplastic ovaries, and uterine hypoplasia. This case provides
additional
evidence for an association between trisomy X and genitourinary
defects including
lower mesodermal defects sequence.
PMID: 9841707 [PubMed - indexed for MEDLINE]
34. Pediatr Nephrol. 1997 Dec;11(6):744-5.
Multicystic dysplastic kidney associated with Waardenburg
syndrome type 1.
Jankauskiene A, Dodat H, Deiber M, Rosenberg D, Cochat P.
Unité de Néphrologie Pédiatrique, Hôpital Edouard Herriot and
Université Claude
Bernard, Lyon, France.
A 16-day-old girl with Waardenburg syndrome type 1 presented
with a right
multicystic dysplastic kidney (MDK) and hydronephrosis in the left
kidney. To our
knowledge, such an association has not yet been reported and
should be added to
the list of MDK-associated genetic syndromes.
PMID: 9438657 [PubMed - indexed for MEDLINE]