Kids Kidney Research

Kidney and renal tract malformations can affect more than one member of a family, making a genetic basis likely. Recently, studies have begun to unravel genes which direct the development of the kidney and lower urinary tract. The project addresses possible genetic bases of three important categories of human malformation: duplex kidneys, posterior urethral valves and cloacal anomalies.

DNA samples have already been collected from families affected by duplex systems; other patients with cloacal malformations and posterior urethral valves have been identified and blood samples are being collected by a research nurse.

A postdoctoral research assistant is using modern genetic techniques to try to pin-down genes which may be “going wrong” in these diseases. The studies will help us understand the basic mechanisms of how the human kidney and urinary tract grows.

Most importantly for patient care, the discovery of malformation genes should lead to better genetic counselling in families with one or more children affected by these potentially-devastating diseases, and the definition of causative genes will give a long-sought explanation to parents of why their childrens’ disease has occurred.