Fabry's disease is and X-linked inborn error of glycosphingolipid metabolism. The primary metabolic defect lies in the deficient tissue activities of the enzyme alpha-galactosidase. A. That results in progressive accumulation of the specific
neutral
glycosphingolipids within the lysosomes of endothelial, perithelial and smooth muscle cells of the cardiovascular and renal systems predominantly.
We reported Fabry's disease in two brothers who had suffered from intermittent high fever, hypohidrosis, heat stroke attacks and pain on exptremities for a few years.
Three years later, the elder brother revisited our hospital because of dyspnea and facial edema. Blood pressure was 220/110 mmHg, hemoglobin 5.5 mg/dl, hematocrit 16.9%, BUN 110 mg/dl, s-creatinine 18.5 mg/dl, K 4.4 mEq/L, Ca++ 6.9 mg/dl. His
visual
acutiy was in the range of hand motion only. Cardiomegaly with interventricular septial hypertrophy and pericardial effusion could be seen by chest X-ray and echocardiography. So we dialyzed him immediaterly, threafter set up regular hemodialysis
schedule. But Blood pressure was not controlled, and he did not tolerate hemodialysis well. So 3 months later, we started CAPD. He was discharged 11 days later.
4 months later. Blood pressure was 120/80 mmHg without antihypertensive medication and symptoms such as fever, heat stroke and pain on extremities disappeared. Cardiomegaly, pericardial effusion and myocardial hypertrophy also disappeared. Visual
acuity
was also improved. He is relatively well now.
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