Department of Nephrology, The First Affiliated Hospital of USTC, Division of Life Science and Medicine, University of Science and Technology of China, Hefei, Anhui, 230001, China.
Iran J Kidney Dis. 2024 Aug 20;18(4):239-243.
Fabry disease (FD) is a rare X-linked genetic disease that can coexist with multiple glomerulopathies. We report a 32-year-old female patient of FD coexisting with stage II membranous nephropathy (MN), who presented with proteinuria, normal renal function, and hypo-hidrosis as the only symptom. The renal biopsy manifested a subepithelial immunocomplex deposit in the glomeruli along with basement membrane thickening on light microscopy. Electron microscopy revealed myeloid bodies in some podocytes, which suggested the patient possibly coexistence with Fabry disease. The low activity of α-galactosidase A and one pathogenic heterozygous mutation (c.335G > Ap.Arg112His) in the α-galactosidase A gene confirmed the diagnosis of Fabry disease. This patient's son had the same gene mutation as his mother but without any symptoms at the time. Treatment with ramipril turned urine protein negative. The proteinuria had reoccurred, as shown by the presence of foamy urine, a protein to creatinine ratio of 1.54 g/g, and a blood albumin level of 34.4g/L. The patient was being treated with allisartan isoproxil. However, at the time, the urine protein did not turn negative.
法布里病（FD）是一种罕见的 X 连锁遗传疾病，可与多种肾小球疾病并存。我们报告了一例 32 岁的 FD 合并 II 期膜性肾病（MN）女性患者，表现为蛋白尿、肾功能正常和少汗，是唯一的症状。肾活检显示肾小球上皮下免疫复合物沉积和基底膜增厚。电镜下发现部分足细胞内有髓样小体，提示可能合并 Fabry 病。α-半乳糖苷酶 A 活性低，α-半乳糖苷酶 A 基因存在一个致病性杂合突变（c.335G＞Ap.Arg112His），确诊为 Fabry 病。该患者的儿子与母亲有相同的基因突变，但当时没有任何症状。给予雷米普利治疗后尿蛋白转为阴性。然而，目前该患者再次出现蛋白尿，表现为泡沫尿、蛋白/肌酐比值为 1.54g/g 和白蛋白水平为 34.4g/L。给予奥美沙坦酯治疗，但目前尿蛋白仍未转为阴性。
