Pedigree Investigation of Clinicopathologic Features and Alpha-galactosidase A Gene Mutation in a Family with Fabry Disease

【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.