Severe kidney disease can be caused by mutant geneRecessive mutations in a gene called phospholipase C epsilon or PLCE1 can lead to a severe, early-onset form of kidney disease and renal failure in children, a previously unknown cause. This finding was revealed by scientists at the University of Michigan Medical School.

The mutant gene identification is important for the scientists since PLCE1 affects the development of podocytes, which are specialized cells playing a vital role in the kidney’s ability to remove waste products from blood and retaining important blood proteins.

Friedhelm Hildebrandt, M.D., the U-M’s Frederick G L Huetwell Professor for the Cure and Prevention of Birth Defects, said this is the first report of infants with two mutations in a recessive gene for nephrotic syndrome (resistant to steroid treatment) that nevertheless responded to treatment with steroids.

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