Congenital Bilateral Hydronephrosis
Primary Researcher: Patrick Brophy, M.D.
email Richard Raymond [click here]

Congenital obstructive nephropathy is one of the major causes of renal failure in children and infants. Very little is understood regarding the genetic underpinnings of these abnormalities. Hydronephrosis is the end result of a variety of obstructive phenomena that occur within the Genitourinary (GU) tract. Uretero Pelvic Junction Obstruction (UPJO) along with Uretero Vesico Junction Obstruction (UVJO), posterior urethral valves, cloacal anomalies, urethral atresia and cystic renal disease represent the most commonly detected GU obstructing lesions leading to hydronephrosis. These "obstructive uropathy" lesions may be unilateral or bilateral. Obstructive uropathy is frequently found on prenatal ultrasounds with an estimated incidence of 1 in 500 fetuses imaged.

We are currently enrolling qualified participant families for linkage and mutational analysis of genes involved with Congenital Bilateral Hydronephrosis. We ask that you print out one form for each family member that will be participating in the study. Aside from the mother and father of the affected infant, the more unaffected siblings that the family enrolls, the more likely we will find the mutation(s). Participants should view all of the forms with their local physician before signing any of these documents.

CPH_Letter_Consent_HQ.pdf
Child Assent_CPH.pdf
(Download the Child Assent document if you are enrolling a minor between 7 and 17 years old.)

Home
Patrick Brophy, M.D.
Potter Syndrome
Congenital Bilateral Hydronephrosis
Gifts & Donations
Researchers
Links
Contacts