| Autor: |
Jin Y; 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., Pen L; 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., Lan L; 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., Jiang J; 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. |
| Abstrakt: |
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. |
