Kids Kidney Research

Inflammation of the kidneys usually leads to a kidney biopsy to define the severity and nature of the inflammation. One possible diagnosis on the biopsy is membranous nephropathy (MN). MN typically causes severe spillage of protein in the urine (called “nephrotic syndrome”) and in about a quarter of affected patients eventually leads to kidney failure. Whilst sometimes MN occurs in the context of chronic infections, in the majority of cases, the doctors don’t know why the condition has happened. Genetic studies can help to better understand MN and are easiest to perform in families with several affected members. However, while such studies have been extremely useful in other forms of nephrotic syndrome and revealed important details about kidney function and treatment, such success has been elusive in the study of MN, possibly due to the paucity of familial cases. Only a handful of sibling pairs are reported in the literature. We have identified the largest family to date with four members affected in three generations. We have analysed their DNA and identified a region on the X-chromosome that is likely harbouring the underlying gene. We propose to further refine this region and sequence the genes harboured within it to identify genetic changes that could have caused the disease in this family. Gene identification would tremendously advance our understanding of MN and likely also provide a new target for treatment of the condition.

UPDATE MAY 2011

The findings of this project have been published in the New England Journal of Medicine.   Please click to read the article and editorial.