Table 1 Clinicopathologic features of the four patients described in this case report
Subject No. | Age/Sex | Clinical findings | α-galactosidase A | c.263A > G mutation | Kidney biopsy findings |
|---|---|---|---|---|---|
Patient 1 | 24/M | Proteinuria | Decreased (2.2 nmol/hr/mg protein) | Present | Consistent with FD |
Patient 2 | 28/M | End-stage renal disease, hypertension, left ventricular hypertrophy | Decreased (4.0 nmol/hr/mg protein) | Present | Consistent with FD |
Patient 3 | 54/F | Mild proteinuria, diabetes | Slightly decreased (32.6 nmol/hr/mg protein) | Present | Unavailable |
Individual 4 | 26/M | Unremarkable | Normal (43.4 nmol/hr/mg protein) | Not present | Unavailable |