Table 3.
Demographic, clinical, laboratory findings of two cases with Fabry disease.
| Case 1 | Case 2 | |
|---|---|---|
| Gender/Age | Male/70 years old | Male/83 years old |
| Etiology | Diabetic nephropathy | Hypertensive nephropathy |
| Clinical manifestations | Cornea verticillata Cataract Type 2 Diabetes Mellitus Coronary artery disease LVH (IVS:13mm, LVPW: 12 mm) Sensorineural hearing loss Carpal tunnel syndrome Osteoporosis (Total T score -3.3) Chronic lacunar infarcts Renal cortical exophytic cysts |
Cornea verticillata Hypertension Coronary artery disease LVH (IVS:16 mm, LVPW:15 mm) Valvular heart disease (mitral stenosis, maximum/mean gradients; 19/5 mmHg, mitral valve area; 1.6 cm2, moderate mitral regurgitation, aortic stenosis maximum/mean gradients; 112/66 mmHg, aortic valve area; 0.80 cm2) Sympathetic autonomic dysfunction |
| Symptoms | Hearing loss | Intolerance to heat Sweating disorder |
| Family history | Premature coronary heart disease | Non-significant |
| Creatinine | 1.95 mg/dL | 1.81 mg/dL |
| 24 hour proteinuria | 50 mg/day | 58.75 mg/day |
| Enzyme activity | 0.5 μmol/l/h | 0.3 μmol/l/h |
| Mutations | c.[937G > T] (p.[D313Y]) | c.[427G > A] p.[A143T] |
| Renal biopsy | FSGS | Not accepted the procedure |
LVH: Left ventricular hypertrophy; IVS: Interventricular septum; LVPW: Left ventricular posterior wall.