title: Diffuse thin glomerular basement membrane in association with Fabry disease in a Chinese female patient.
abstract: 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.
authors.affiliation: Renal Division, Department of Medicine, Peking University First Hospital, Beijing, China.
authors.forename: Zhi-yong
authors.initials: ZY
authors.lastname: Cai
authors.forename: You-kang
authors.initials: YK
authors.lastname: Zhang
authors.forename: Su-xia
authors.initials: SX
authors.lastname: Wang
authors.forename: Qiu-yuan
authors.initials: QY
authors.lastname: Fang
authors.forename: Yu-qing
authors.initials: YQ
authors.lastname: Chen
mesh_terms: D000328:Adult; D019867:Anti-Glomerular Basement Membrane Disease / Q000235:genetics; D044466:Asian People / Q000235:genetics; D001324:Autoantigens / Q000235:genetics; D024141:Collagen Type IV / Q000235:genetics; D000795:Fabry Disease / Q000150:complications* / Q000235:genetics / Q000473:pathology; D005260:Female; D050533:Glomerular Basement Membrane / Q000378:metabolism / Q000473:pathology* / Q000648:ultrastructure; D005923:Glomerulosclerosis, Focal Segmental / Q000209:etiology* / Q000378:metabolism / Q000473:pathology; D006801:Humans; D008297:Male; D009154:Mutation / Q000235:genetics; D010375:Pedigree; D055815:Young Adult
chemical_list: D001324:Autoantigens; C466620:COL4A4 protein, human; D024141:Collagen Type IV; C057112:type IV collagen alpha3 chain