1. Galloway-Mowat syndrome: a glomerular basement membrane disorder?
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Chun-Chen Lin, Jeng-Daw Tsai, Shuan-Pei Lin, Chin-Yuan Tzen, Ein-Yiao Shen, and Chien-Sheng Shih
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Electron microscopy -- Usage ,Kidney diseases -- Case studies ,Kidney diseases -- Diagnosis ,Children -- Diseases ,Children -- Case studies ,Children -- Diagnosis - Abstract
Byline: Chun-Chen Lin (1), Jeng-Daw Tsai (1), Shuan-Pei Lin (1), Chin-Yuan Tzen (3), Ein-Yiao Shen (1), Chien-Sheng Shih (2) Keywords: KeywordsaGalloway-Mowat syndrome; Arachnodactyly; Effacement of foot processes; Irregular thickness of glomerular basement membrane; Glomerular basement membrane disorder Abstract: 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. Author Affiliation: (1) Department of Pediatrics, Mackay Memorial Hospital, Taipei, Taiwan, TW (2) Department of Pediatrics, Taipei Medical University, Taipei, Taiwan, TW (3) Department of Pathology, Mackay Memorial Hospital, Taipei, Taiwan, TW (4) No. 92, Sec. 2, Chung-Shan North Road, Taipei, Taiwan e-mail: chunchenlin@kimo.com.tw Tel.: +886-2-25433535, Fax: +886-2-25433642, TW Article note: Received: 12 December 2000 / Revised: 26 March 2001 / Accepted: 29 March 2001
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- 2001
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