Gene Identified for Early Onset Nephrotic Syndrome
Disease reversible in some cases after steroid treatment
THURSDAY, Nov. 9 (HealthDay News) -- Researchers have identified a gene that when mutated can cause early onset nephrotic syndrome, a defect of the kidney glomerular filter that can lead to end-stage kidney disease, according to a study published online Nov. 5 in Nature Genetics.
Nephrotic syndrome caused by certain mutations of the PLCE1 gene may sometimes be reversible, as some of the affected children responded fully to steroid treatment even though the disease is usually resistant to steroids.
Friedhelm Hildebrandt, M.D., from the University of Michigan in Ann Arbor, and colleagues performed a whole-genome search for genes involved in early onset nephrotic syndrome in families with at least one child with nephrotic syndrome.
The search identified the PLCE1 gene, whose expression was enriched in the glomerulus. Two children with nephrotic syndrome had a full and sustained response to treatment with corticosteroids or cyclosporin A, which the authors note has not been the case for children with nephrotic syndrome caused by mutations in other genes. Kidney histology appeared to correlate with the type of PLCE1 mutation, according to the study.
"The identification of PLCE1 mutations represents the first molecular cause of a nephrotic syndrome variant that resolved after therapy in some individuals," Hildebrandt and colleagues conclude.