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Chronic Kidney Disease Related To Mutant Gene

Scientists at the University of Michigan Medical School have uncovered the reason for a severe form of kidney affliction and renal failure //in children, which is because of mutations in a gene called phospholipase C epsilon or PLCE1.

Discovering the mutant gene is crucial to scientists because PLCE1 impacts the development of podocytes – that are unique cells that have an important role in the kidney's function in the body.

To parents of infants with inherited PLCE1 mutations, the study is especially significant because it provides the first evidence that some types of a kidney disease called nephrotic syndrome, if diagnosed early in infancy, may be treated successfully in children.

'This is the first report of infants with two mutations in a recessive gene for steroid-resistant nephrotic syndrome who nevertheless responded to steroid treatment,' says Friedhelm Hildebrandt, M.D., the U-M's Frederick G L Huetwell Professor for the Cure and Prevention of Birth Defects. 'The early onset form of the disease is severe and infants often go into end-stage renal disease within the first year of life. So, until now, most physicians believed there was no point in trying treatment.'

The study will be published Nov. 5 in Nature Genetics as an Advance Online Publication, and will be printed in the journal's December 2006 issue.

There are many types and many causes of nephrotic syndrome, but basically it is a disease of the glomerulus, the kidney's main blood filtration unit. There are about one million of these filtration units in each human kidney. As blood flows through a network of tiny capillaries in the glomerulus, excess water, salts and toxic molecules are removed and flushed out in urine, while important blood proteins like albumin are retained in the bloodstream. If the kidney's filtering units don't work properly, nephrotic syndrome develops. Proteins leaking out from the glomerulus are excreted in urine,
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