Kidney disease caused by mutation may be reversible

The identification of a new genetic cause of a damaging kidney disease is reported in a study to be published in the December issue of Nature Genetics. The particular variant of nephrotic syndrome under study has also provided the first evidence that some cases of the disease may be fully reversible after therapy.

Nephrotic syndrome is caused by a malfunction of the filtering apparatus of the kidney, which leads to body swelling and kidney damage. In many cases it leads to severe kidney disease, requiring dialysis or a kidney transplant. Mutations in several genes have been found to underlie the disorder, but 70% of all cases remain unexplained. Friedhelm Hildebrandt and colleagues identify mutations in the gene PLCE1 in 5 families with early-onset nephrotic syndrome. Two of the children in these families responded fully to steroid therapy, and remain free of symptoms several years after the cessation of treatment. While the symptoms of some forms of nephrotic syndrome are known to respond to steroid treatment, this is the first report of a fully reversible form of the disease. The authors suggest that the developmental defect defined by loss of PLCE1 function may allow for a window in time during which treatment can be effective. (Source: Nature Genetics : University of Michigan : November 2006.)