Genotyping Questionnaire
This is the Eunefron Questionnaire for Medullary Cystic Kidney Disease. Please fill out completely
and send along with the genotyping request by email. Please wait for a reply before sending
material.
Please indicate whether you are requesting a test for diagnostic
a signed informed consent form is required)
 or research  purposes (in case of research,
Samples:
10 - 15 ml of blood collected in EDTA tubes (purple-top)
Send at ambient temperature to :
Please contact:
G M Ghiggeri
UO Nephrology, Dialysis Transplantation,
G. Gaslini Children Hospital.
Largo G. Gaslini, 5. 16148 Genova (Italy)
It is necessary to include:
-
(The consent form) (for research based tests, a signed copy must be preserved in the file)
The enclosed questionnaire for genetic study orientation
The pedigree
Patient information
Last name………………………………………First name…………………………………………………….
Sex M
F
Date of birth (mm/dd/yyyy) :………………………………………………………………………………
Nationality/Ethnic origin:……………………………………………
Patient Information
Age of MCKD diagnosis………………………………………………………………………………
Clinical manifestations at diagnosis…………………………
DATA AT DIAGNOSIS:
Serum creatinine mol/l…………..
Uricemia……………………
Urinalysis: proteinuria Yes 
Normal kidneys
Yes 
Small kidneys
Yes 
Renal cysts
Yes 
Medullary cysts
Yes 
Gout :
Yes 
Urinary tract infections Yes 
No
No
No
No
No
No
No







Hematuria: Yes 
No  specific gravity…………..
If yes, age at first episode………….
If yes,
SPECIFIC STUDIES FOR MCKD
Date:
Height………………. Body weight………………..
Serum creatinine …………………mol/l. Creatinine clearance:…………….(ml/mn/1.73M2 );
e-GFR: MDRD formula……………..
Cockroft-Gault formula………………….
Uricemia…………………Uricosuria……………… Ac. Uric Clearance ………………
Urinalysis: proteinuria Yes 
No 
Hematuria: Yes 
No 
Morning Urinary Osmolality……………... mOsm/kg.
RENAL ULTRASONOGRAPHY
Normal kidneys
Yes 
Small kidneys
Yes 
Renal cysts
Yes 
Medullary cysts
Yes 
No
No
No
No




RENAL BIOPSY
Tubular atrophy
Yes 
No
Tubular dilation
Yes 
No
Glomerular cysts
Yes 
No
Interstitial fibrosis
Yes 
No
Interstitial infiltrate
Yes 
No
Immunohistochemistry
Uromodulin intracellular inclusions





Yes 
Treatment
 allopurinol…………………
 antihypertensive drugs
 Others…………………………..
No 
Yes 
Yes 
No 
No 
Outstanding facts during the evolution
………………………………………………………………………………………
……………………………………………………………………………………………………………………………………………………………
………………………………………………………………………………
Last Serum creatinine date……………..(mol/l)…………………
Last GFR evaluation
date………………(MDRD, Cockroft, creatinine clearance)
Comments
…………………………………………………………………………………..………………………………………………………………………
……………………………………………………………………………………………………………………………………………………………
……………………………………………………………………………………………………………………………………………………
Physician :
Address :
Stamp
phone :
e-mail :
sample for genetic molecular test :
Signed informed consent :
Date :
 yes  no
 yes  no
Signature :
INFORMED CONSENT FOR GENETIC TEST (for research based tests)
A document of this type must accompany the prescription and clinical information which are necessary for each
genetic study.
Patient information
Last Name :
Date of Birth :
Address :
First Name :
If the patient is less than 18 years old,
information on the person who exerts the
parental authority (or
legally authorized
representative)
Last Name :
First Name :
CONSENT
My signature below indicates that Doctor ……………………………………………………… has given me all of the
information concerning the genetic studies, that will be performed for diagnosis and/or research, from (chose
one) :
The sample which was carried out on me
for genetic diagnosis
The sample which was carried out on my minor child
for genetic research
For:
Genetic predisposition to :
I give my consent for this sample and I admit to having received the entire information which are necessary to
understand the finality of this study
At…………………………………….. The ………………………………………
Signature
ATTESTATION
I certify that I have informed the patient named above, Signature and stamp
about the characteristics of the tested disease, the ways of
diagnosing it, the possible prevention and treatment
methods, and to having informed him/her about the
consent form.