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Titolo:
Galloway-Mowat syndrome: a glomerular basement membrane disorder?
Autore:
Lin, CC; Tsai, JD; Lin, SP; Tzen, CY; Shen, EY; Shih, CS;
Indirizzi:
Mackay Mem Hosp, Dept Pediat, Taipei, Taiwan Mackay Mem Hosp Taipei Taiwan kay Mem Hosp, Dept Pediat, Taipei, Taiwan Taipei Med Univ, Dept Pediat, Taipei, Taiwan Taipei Med Univ Taipei Taiwan pei Med Univ, Dept Pediat, Taipei, Taiwan Mackay Mem Hosp, Dept Pathol, Taipei, Taiwan Mackay Mem Hosp Taipei Taiwan kay Mem Hosp, Dept Pathol, Taipei, Taiwan
Titolo Testata:
PEDIATRIC NEPHROLOGY
fascicolo: 8, volume: 16, anno: 2001,
pagine: 653 - 657
SICI:
0931-041X(200108)16:8<653:GSAGBM>2.0.ZU;2-K
Fonte:
ISI
Lingua:
ENG
Soggetto:
CONGENITAL NEPHROTIC SYNDROME; ABNORMAL GYRAL PATTERNS; PERMEABILITY;
Keywords:
Galloway-Mowat syndrome; arachnodactyly; effacement of foot processes; irregular thickness of glomerular basement membrane; glomerular basement membrane disorder;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Clinical Medicine
Citazioni:
19
Recensione:
Indirizzi per estratti:
Indirizzo: Tsai, JD 92,Sec 2,Chung Shan North Rd, Taipei, Taiwan 92,Sec 2,Chung ShanNorth Rd Taipei Taiwan Rd, Taipei, Taiwan
Citazione:
C.C. Lin et al., "Galloway-Mowat syndrome: a glomerular basement membrane disorder?", PED NEPHROL, 16(8), 2001, pp. 653-657

Abstract

We report a female infant with Galloway-Mowat syndrome. In addition to thecharacteristic 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.

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Documento generato il 27/11/20 alle ore 02:23:53