TY - JOUR
T1 - Galloway-Mowat syndrome
T2 - A glomerular basement membrane disorder?
AU - Lin, Chun Chen
AU - Tsai, Jeng Daw
AU - Lin, Shuan Pei
AU - Tzen, Chin Yuan
AU - Shen, Ein Yiao
AU - Shih, Chien Sheng
PY - 2001
Y1 - 2001
N2 - 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.
AB - 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.
KW - Arachnodactyly
KW - Effacement of foot processes
KW - Galloway-Mowat syndrome
KW - Glomerular basement membrane disorder
KW - Irregular thickness of glomerular basement membrane
UR - http://www.scopus.com/inward/record.url?scp=0034908362&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=0034908362&partnerID=8YFLogxK
U2 - 10.1007/s004670100628
DO - 10.1007/s004670100628
M3 - Article
C2 - 11519896
AN - SCOPUS:0034908362
SN - 0931-041X
VL - 16
SP - 653
EP - 657
JO - Pediatric Nephrology
JF - Pediatric Nephrology
IS - 8
ER -