A female patient of Fabry disease complicated with thin basement membrane nephropathy and investigation of the kindred
10.3760/cma.j.issn.1001-7097.2011.01.001
- VernacularTitle:一例女性Fabry病并发薄基底膜肾病及其家系调查
- Author:
Zhiyong CAI
;
Youkang ZHANG
;
Suxia WANG
;
Qiuyuan FANG
;
Linchang LIU
;
Yu HUANG
;
Hong ZHANG
;
Xin ZHENG
;
Yuqing CHEN
;
Wanzhong ZOU
- Publication Type:Journal Article
- Keywords:
Fabry disease;
Glomerular basement membrane;
Thin basement membrane nephropathy;
Mutation;
GLA gene;
COL4A3 gene
- From:
Chinese Journal of Nephrology
2011;27(1):1-6
- CountryChina
- Language:Chinese
-
Abstract:
Objective To elucidate the features of clinicopathology and mutation in Fabry disease complicated with thin basement membrane nephropathy (TBMN), and to investigate the kindred. Methods Data of clinicopathology and gene mutation of a female patient of Fabry disease complicated with TBMN admitted to the Department of Nephro]ogy in our hospital were analyzed. Members of her kindred were investigated simultaneously. Results Proband was a 41-year-old Chinese woman who presented syndrome of Fabry disease and TBMN including angiokeratomas, chronic pain, tinnitus, vertigo, left ventricular hypertrophy and nephropathy as proteinuria, microscopic hematuria and hypertension. A percutaneous renal biopsy was performed on the proband, which was consistent with FSGS and vaculization of podocytes by light microscopy.Electron microscopy showed concentric lamellated inclusions in some podocytes. Diffuse thinning of glomerular basement membrane (GBM) with a mean thickness of (216±31) nm was found. The diagnosis of TBMN with suspected Fabry disease was identified. Family screening showed that her daughter had microscopic hematuria, tinnitus and neuropathic pain. One of her sisters only had microscopic hematuria. The activity of α-galacsidase A (α-Gal A )enzyme in the proband and her daughter was 33 units and 75 units respectively (the normal range is 100 to 500 units). They all carried the novel GLA mutation 1208 ins 21 bp and COL4A3 SNP c: 3627G＞A(p:M1209I). While her sister who only had microscopic hematuria just carried the variant of COL4A3 gene-c:3627G ＞A (p:M1209I), and had the normal activity of α-Gal A with no mutation of GLA.Conclusion TBMN should be considered in the patients of Fabry disease with the condition of benign familial hematuria.
