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 journalArticle

13 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 languageEnglish
Pages (from-to)653-657
Number of pages5
JournalPediatric Nephrology
Volume16
Issue number8
DOIs
Publication statusPublished - 2001
Externally publishedYes

Fingerprint

Glomerular Basement Membrane
Arachnodactyly
Kidney
Nephrotic Syndrome
Taiwan
Foot
Siblings
Dilatation
Microscopy
Electron Microscopy
Observation
Pathology
Light
Galloway Mowat syndrome

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

Cite this

Lin, C. C., Tsai, J. D., Lin, S. P., Tzen, C. Y., Shen, E. Y., & Shih, C. S. (2001). Galloway-Mowat syndrome: A glomerular basement membrane disorder? Pediatric Nephrology, 16(8), 653-657. https://doi.org/10.1007/s004670100628

Galloway-Mowat syndrome : A glomerular basement membrane disorder? / Lin, Chun Chen; Tsai, Jeng Daw; Lin, Shuan Pei; Tzen, Chin Yuan; Shen, Ein Yiao; Shih, Chien Sheng.

In: Pediatric Nephrology, Vol. 16, No. 8, 2001, p. 653-657.

Research output: Contribution to journalArticle

Lin, CC, Tsai, JD, Lin, SP, Tzen, CY, Shen, EY & Shih, CS 2001, 'Galloway-Mowat syndrome: A glomerular basement membrane disorder?', Pediatric Nephrology, vol. 16, no. 8, pp. 653-657. https://doi.org/10.1007/s004670100628
Lin, Chun Chen ; Tsai, Jeng Daw ; Lin, Shuan Pei ; Tzen, Chin Yuan ; Shen, Ein Yiao ; Shih, Chien Sheng. / Galloway-Mowat syndrome : A glomerular basement membrane disorder?. In: Pediatric Nephrology. 2001 ; Vol. 16, No. 8. pp. 653-657.
@article{7de90776317c46f5ac399c82fb3bb0ff,
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.",
keywords = "Arachnodactyly, Effacement of foot processes, Galloway-Mowat syndrome, Glomerular basement membrane disorder, Irregular thickness of glomerular basement membrane",
author = "Lin, {Chun Chen} and Tsai, {Jeng Daw} and Lin, {Shuan Pei} and Tzen, {Chin Yuan} and Shen, {Ein Yiao} and Shih, {Chien Sheng}",
year = "2001",
doi = "10.1007/s004670100628",
language = "English",
volume = "16",
pages = "653--657",
journal = "Pediatric Nephrology",
issn = "0931-041X",
publisher = "Springer Verlag",
number = "8",

}

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

VL - 16

SP - 653

EP - 657

JO - Pediatric Nephrology

JF - Pediatric Nephrology

SN - 0931-041X

IS - 8

ER -