‫‪Cystic diseases of the kidney‬‬
‫الفرقه ‪ :‬الثانيه‬
‫بيانات خاصه بالطالب‬
‫اسم الطالب‬
‫الرقم األكاديمى‬
‫االيميل الجامعى للطالب‬
‫رقم الموبيل‬
‫سلمي أحمد وليد أنور مراد‬
‫‪19205‬‬
‫‪salma193296@fmed.bu.edu.eg‬‬
‫‪01118443839‬‬
Cystic diseases of the kidney
Introduction:

A cyst is an epithelium-lined cavity filled with fluid.

Renal cysts are found in varied congenital, hereditary, and acquired
kidney diseases and occur with physiological aging.

Most true renal cysts originate from tubules.

It is important to differentiate between simple unilateral or bilateral renal
cysts; nonfunctioning, multi-cystic, dysplastic kidneys; and cystic diseases
that lead to progressive deterioration of kidney function and eventual
end-stage renal failure (ESRD) due to loss of functional renal tissue
(polycystic kidney diseases) or as part of multisystem disorders or
syndromes with important non-renal manifestations.
Classification of cystic renal diseases: Tab (1)
Diagnosis
Tab (2) Diagnosis of ADPKD
Diagnostic criteria for ADPKD


Positive family history with autosomal dominant pattern
Ultrasound screening of parents may be positive
Enlarged kidneys with multiple bilateral renal cysts (ultrasound or CT scan) and a positive family history
 Age <30 years
³ 2 renal cysts (unilateral/bilateral)
 Age 30–59 years
³ 2 renal cysts in each kidney
 Age >60 years
³ 4 renal cysts in each kidney
Extra-renal Manifestations
• Commonly seen in adults.
• Cerebral aneurysms; cysts in liver, pancreas, and ovary; cardiac valvular disease (mitral valve
prolapse); and colonic diverticula, abdominal wall and inguinal hernias are commonly associated.
• A ruptured cerebral aneurysm is the most serious extra-renal complication.
• The use of routine screening for cerebral aneurysm is controversial but may be indicated for those
patients with a previous rupture, a family history of intracranial aneurysm, or overt warning symptoms
such as a severe headache.
Tab (3) Diagnosis of ARPKD
Diagnostic criteria for ARPKD
- Ultrasound features
Enlarged, echogenic kidneys with poor corticomedullary differentiation. Cysts are usually
small and only visualized by high-resolution ultrasound
- One or more of the following
a) Absence of renal cysts in both parents if evaluated after 30 years of age
b) Clinical, laboratory, or radiographic evidence of hepatic fi brosis
c) Hepatic pathology demonstrating characteristic ductal plate abnormality
d) Previous affected sibling with pathologically con fi rmed disease
e) Parental consanguinity suggestive of autosomal recessive inheritance
Extra-renal Manifestations
• Liver involvement is overt in 50–60 %. Microscopic abnormalities are detected by liver biopsy in 100
%. Congenital hepatic fibrosis may present with hepatomegaly and portal hypertension. Histopathology
shows ductal plate abnormalities.
• Choledochal cysts. Subset of patients with overt biliary duct dilatation (Caroli’s disease).
• Hypersplenism, esophageal varices, and cholangitis may complicate liver disease.
Tab (4) Differentiation between ARPKD & ADPKD
Patient
Tab (5) Monitoring & treatment of ADCKD & ARCKD
ADCKD
ARCKD
• If asymptomatic, US screening every 5 • No specific treatment.
Monitoring
Treatment
years; more frequently once symptomatic.
• Annual BP and urinalysis (proteinuria).
• Routine screening for intracranial
aneurysms is not recommended.
Vasopressin
receptor
antagonists, tyrosine kinase
inhibitors, rapamycin, and
octreotide
hold
some
promise.
• Control of hypertension.
• No specifi c treatment. Vasopressin 2 • Yearly ultrasound for
receptor antagonists (e.g., tolvaptan) and
hepatic and splenic size
mTOR inhibitors (mammalian inhibitors of • Endoscopic evaluation of
rapamycin) have shown minor or
esophageal varices
disappointing effects in clinical trials.
•
Monitoring
of
• ACE inhibitors or ARB for hypertension hematological parameters
and proteinuria.
• Consider generous water intake to suppress
systemic and local levels of vasopressin;
vasopressin is believed to contribute to cyst
formation.
Fig.1 Flow diagram to diagnose and treat ADCKD
Potential Disease-Modifying Therapies for ADCKD:
Clinical trials of rapalogs showed no clinical benefit of Somatostatin Analogs, possibly
because their toxicity prevented adequate dosingto affect the cystic disease in humans (60–
63). A phase 2trial of bosutinib, an Src/Abl kinase inhibitor, showedinhibition of kidney
growth but was complicated by a highwithdrawal rate due to adverse events (64). A phase 2
trialof tesevatinib, a tyrosine kinase inhibitor, is ongoing(clinicaltrials.gov; NCT03203642).
Two phase 2 trials areinvestigating the effect of metformin, previously shown toreduce
cystic enlargement in rapidly progressive mousemodels (clinicaltrials.gov; NCT02656017,
NCT02903511).Small clinical trials of pioglitazone (clinicaltrials.gov;NCT02697617) and
nicotinamide (clinicaltrials.gov;NCT02140814) are ongoing. Drugs targeting glucosyl ceramide synthase (clinicaltrials.gov; NCT03523728) and micro-RNAs (65) and the vasopressin V2
receptor antagonistlixivaptan (clinicaltrials.gov; NCT03487913) are also in theclinical trial
pipeline.
Family education about ADCKD:
-
-
Polycystic kidney disease (PKD) is an inherited condition which leads to the growth
of cysts on the kidneys.
You may have no symptoms or health problems for many years.
At the moment there is no cure for PKD, but early detection and treatment can
reduce or prevent some complications of PKD.
Being AD disease: Screening of parents of index case or grandparents, if parents
younger than 30 years. A genetic counseling will be able to talk to you about the
pros and cons of screening and help you to make the best decision for you and
your family.
Families should be informed about possible methods of early diagnosis, picking up
and dealing with complications
References
1. Arts HH, Knoers NVAM (2013) Current insights into renal ciliopathies: what can
genetics teach us? Pediatr Nephrol 28:863–874
2. Avni FE, Garel C, Cassart M, D’Haene ND, Hall M, Riccabona M (2012) Imaging
and classifi cation of congenital cystic renal diseases. Am J Roentgenol 198:1004–
1013
3. Chaki M, Hoefele J, Allen SJ, Ramaswami G, Janssen S, Bergmann C, Heckenlively
JR, Otto EA, Hildebrandt F (2011) Genotype-phenotype correlation in 440 patients
with NPHP-related ciliopathies.
4. Kidney Int 80:1239–1245
5. Dell KM (2011) The spectrum of polycystic kidney disease in children. Adv Chronic
Kidney Dis 18:339–347