四川大学学报（医学版）2012，Vol.43Issue(6)：948-951,4.
Fabry病—家系临床调查及α-半乳糖苷酶A基因突变研究
Pedigree Investigation of Clinicopathologic Features and Alpha-galactosidase A Gene Mutation in a Family with Fabry Disease
刘晓霞 1余朝文 2杨元 2胡章学1
作者信息
- 1. 四川大学华西医院 肾内科,成都 610041
- 2. 四川大学华西医院 医学遗传研究室,成都 610041
- 折叠
摘要
Abstract
Objective To analyze the clinical manifestation, clinicopathologic features and alpha-galactosidase A (GLA) gene mutations in a pedigree with Fabry disease. Methods 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. Results ①The 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. ②The 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. Conclusion 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.关键词
Fabry病/α-半乳糖苷酶A基因/突变Key words
Fabry disease/Alpha-galactosidase A gene/Mutation引用本文复制引用
刘晓霞,余朝文,杨元,胡章学..Fabry病—家系临床调查及α-半乳糖苷酶A基因突变研究[J].四川大学学报（医学版）,2012,43(6):948-951,4.
