先证者
错义突变
法布里病
α-半乳糖苷酶
突变
病理
点突变
肾活检
局灶节段性肾小球硬化
医学
遗传学
法布里病
人口
疾病
活检
生物
基因
肾小球肾炎
肾
环境卫生
作者
Xiaoxia Liu,Chaowen Yu,Yang Yuan,Zhangxue Hu
出处
期刊:PubMed
日期:2012-11-01
卷期号:43 (6): 948-51
摘要
To analyze the clinical manifestation, clinicopathologic features and alpha-galactosidase A (GLA) gene mutations in a pedigree with Fabry disease.In this study, we retrospectively collected the clinical data of the members in the pedigree with Fabry disease, then the clinicopathologic features of the male proband were analyzed by renal biopsy, and GLA gene was detected by PCR and direct sequencing.1) The proband was characterized by pigmentation of bilateral lower extremities, episodes of neuropathic pain, and renal dysfunction. The renal biopsy showed secondary focal segmental glomerulosclerosis with massive foam-cell liked podocytes under light microscope and abundant inclusions in podocytes which were round, comprising concentric layers of dense material separated by clear spaces under electron microscope. 2) The proband was identified to present a missense mutation as CAG119TAG (Q119T). The mother and niece of the proband were the carriers of this missense mutation.We identified a family with Fabry disease resulting from a novel point mutation of GLA gene, which has not been reported before in Chinese population.
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