Journal Article

Diffuse thin glomerular basement membrane in association with Fabry disease in a Chinese female patient

Zhi-yong Cai, You-kang Zhang, Su-xia Wang, Qiu-yuan Fang and Yu-qing Chen

in Nephrology Dialysis Transplantation

Published on behalf of European Renal Association - European Dialysis and Transplant Assoc

Volume 26, issue 11, pages 3813-3816
Published in print November 2011 | ISSN: 0931-0509
Published online August 2011 | e-ISSN: 1460-2385 | DOI: http://dx.doi.org/10.1093/ndt/gfr455
Diffuse thin glomerular basement membrane in association with Fabry disease in a Chinese female patient

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We report a 41-year-old Chinese female with Fabry disease and diffuse thinning of the glomerular basement membrane (GBM). The patient presented with peripheral edema, mild proteinuria, microscopic hematuria, normal renal function, hypertension and tinnitus. Family screening showed that her daughter had microscopic hematuria, tinnitus and neuropathic pain. Renal biopsy of the proband showed focal segmental glomerulosclerosis with cytoplasmic vacuolization of the glomerular visceral epithelial cells by light microscopy. Laminated myelin inclusions in some of the glomerular podocytes, parietal epithelia, distal tubular epithelial cells and vascular endothelial cells along with diffuse thinning of the GBM (mean thickness of GBM: 216 ± 31 nm) were identified by electron microscopy. Genetic analysis detected a de novo novel GLA mutation, 1208 ins 21 bp, while a new variant of COL4A3 SNP M1209I was carried by mother and daughter as well as the proband’s father (I-1) and one sister (II-4). The coexistence of thinned GBM should be considered in patients with Fabry disease-manifested familial hematuria.

Keywords: COL4A3; Fabry disease; GLA; thin basement membrane nephropathy; mutation

Journal Article.  1455 words.  Illustrated.

Subjects: Nephrology

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