关键词: 法布里病；　GLA基因； 　临床特点；　基因分析

Abstract: Objective　To investigate the clinical features of Anderson- Fabry syndrome and the mutation features of its pathogenic gene, GAL. Method　The clinical manifestations and genetic tests of 2 cases with Fabry syndrome were retrospectively analyzed, and the related literatures were reviewed. The mutation analysis of two patients and their family members was conducted by next generation sequencing (NGS). Results　Onset age of both patients were on adolescents. The initial symptoms were pain in the extremities, sweating, hearing loss, proteinuria, abnormal renal function and superficial corneal spoon like turbidity of corneal stroma. Pathological changes by renal biopsy showed changes in podocyte swelling, foam like changes, focal hyperplasia and sclerosing glomerulonephritis. Brain MRI was normal. NGS identified a hemizygous mutation IVS6+3A>G in patient 1 inherited from his mother, and the patient's aunt is also a mutation carrier, the old sister of this patient was normal. Functional studies show that this mutation affects mRNA maturity. NGS found a hemizygote mutation c.58G>A in patient 2 that inherited from his mother has been reported elsewhere. Conclusion　Fabry disease patients have multiple organ abnormalities with varied manifestations, gene testing is conducive to the early diagnosis.

Key words: Fabry disease;　GLA gene;　clinical manifestations;　genetic testing