Article
Novel heterozygous COL4A3 mutation in a family with late-onset ESRD.
Pediatric nephrology (Berlin, Germany) - 1 Aug 2010
Hoefele Julia, Lange-Sperandio Bärbel, Ruessmann Despina, Glöckner-Pagel Judith, Alberer Martin, Benz Marcus R, Nagel Mato, Weber Lutz T
Abstract excerpt
Thin basement membrane nephropathy (TBMN) and Alport syndrome (ATS) are genetically heterogeneous conditions characterized by structural abnormalities in the glomerular basement membrane (GBM). TBMN presents with hematuria, minimal proteinuria, and normal renal function. Although TBMN is an autosomal dominant disease (COL4A3 and COL4A4), ATS can be inherited X-linked (COL4A5), autosomal recessive, or autosomal...
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