Galloway-Mowat syndrome: A glomerular basement membrane disorder?

Chun Chen Lin, Jeng Daw Tsai, Shuan Pei Lin, Chin Yuan Tzen, Ein Yiao Shen, Chien Sheng Shih

研究成果: 雜誌貢獻文章同行評審

14 引文 斯高帕斯(Scopus)

摘要

We report a female infant with Galloway-Mowat syndrome. In addition to the characteristic dysmorphic appearance, neurological anomalies and early-onset nephrotic syndrome, she had arachnodactyly, an observation thus far reported uniquely in Taiwan. Also, her elder sister had the same condition. Renal pathology on light microscopy showed cystic dilatation of the renal tubules. Electron microscopy showed an irregular glomerular basement membrane and effacement of foot processes. This observation suggests that malformation of the glomerular basement membrane may cause the glomerulopathy in Galloway-Mowat syndrome.
原文英語
頁(從 - 到)653-657
頁數5
期刊Pediatric Nephrology
16
發行號8
DOIs
出版狀態已發佈 - 2001
對外發佈

ASJC Scopus subject areas

  • 腎臟病學
  • 兒科、圍產兒和兒童健康

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