Article
Alport-like glomerular basement membrane changes with renal-coloboma syndrome.
Pediatric nephrology (Berlin, Germany) - 1 Jul 2012
Ohtsubo Hiromi, Morisada Naoya, Kaito Hiroshi, Nagatani Koji, Nakanishi Koichi, Iijima Kazumoto
Abstract excerpt
BACKGROUND: Autosomal dominant mutations in paired box gene 2 (PAX2), on chromosome 10q24, are responsible for renal coloboma syndrome (RCS). The role of PAX2 in glomerular basement membrane (GBM) formation and maintenance remains unknown. CASE-DIAGNOSIS: We report a case of a 13-year-old Japanese girl who had both optic disk coloboma and renal insufficiency. Her father and sister also had both coloboma and renal...
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