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

doi:10.1007/s004670100628

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

Research output: Contribution to journal › Article › peer-review

17 Citations (Scopus)

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.

Original language	English
Pages (from-to)	653-657
Number of pages	5
Journal	Pediatric Nephrology
Volume	16
Issue number	8
DOIs	https://doi.org/10.1007/s004670100628
Publication status	Published - 2001
Externally published	Yes

Keywords

Arachnodactyly
Effacement of foot processes
Galloway-Mowat syndrome
Glomerular basement membrane disorder
Irregular thickness of glomerular basement membrane

ASJC Scopus subject areas

Nephrology
Pediatrics, Perinatology, and Child Health

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10.1007/s004670100628

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title = "Galloway-Mowat syndrome: A 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.",

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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

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Galloway-Mowat syndrome: A glomerular basement membrane disorder?

Abstract

Keywords

ASJC Scopus subject areas

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