Article
NPHP1 (Nephrocystin-1) Gene Deletions Cause Adult-Onset ESRD.
Journal of the American Society of Nephrology : JASN - 1 Jun 2018
Snoek Rozemarijn, van Setten Jessica, Keating Brendan J, Israni Ajay K, Jacobson Pamala A, Oetting William S, Matas Arthur J, Mannon Roslyn B, Zhang Zhongyang, Zhang Weijia, Hao Ke, Murphy Barbara, Reindl-Schwaighofer Roman, Heinzl Andreas, Oberbauer Rainer, Viklicky Ondrej, Conlon Peter J, Stapleton Caragh P, Bakker Stephan J L, Snieder Harold, Peters Edith D J, van der Zwaag Bert, Knoers Nine V A M, de Borst Martin H, van Eerde Albertien M
Abstract excerpt
Background Nephronophthisis (NPH) is the most prevalent genetic cause for ESRD in children. However, little is known about the prevalence of NPH in adult-onset ESRD. Homozygous full gene deletions of the NPHP1 gene encoding nephrocystin-1 are a prominent cause of NPH. We determined the prevalence of NPH in adults by assessing homozygous NPHP1 full gene deletions in adult-onset ESRD.Methods Adult renal transplant...
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