Editor's Choice Main Category: Urology / Nephrology Also Included In: Pediatrics / Children's Health;Genetics Article Date: 16 Nov 2012 - 10:00 PST

Current ratings for: Genetic Link Found In Children With Kidney Defects And Neurodevelopmental Disorders

Around 10 percent of kids with kidney defects have these mutations in their genomes, also known to be associated with mental illness and neurodevelopmental delay.

Congenital urinary tract and kidney defects make up about 25 percent of all birth defects in the United States and are found in one in every 200 births.

At last, an analysis for genomic alterations will be included in standard clinical workup. Patients who have congenital kidney disorder, presently included in one group, will be put into subcategories according to their genetic mutations, resulting in a more specific diagnosis.

Kidney specialist Ali Gharavi, MD, associate professor of medicine at CUMC, associate director of the Division of Nephrology, and an internist and nephrologist at NewYork-Presbyterian Hospital says:

This study was a broad collaboration of CUMC and other medical centers worldwide. Up until this point, no studies have successfully connected congenital kidney disease with neurodevelopmental disorders.

Simone Sanna-Cherchi, MD, an associate research scientist in CUMC's Department of Medicine explains:

Nearly 20 percent of kidney defects come from big DNA mutations. The mutations identified by Drs. Gharavi and Sanna-Cherchi and their team, are in a class of mutations known as copy number variations (CNVs).

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Genetic Link Found In Children With Kidney Defects And Neurodevelopmental Disorders

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