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| 말기 신부전으로 진행되어 복막투석으로 치료중인 Fabry`s Disease 1예 |
| 이순형 , 김한식 , 김상균 , 조진웅 , 김민철 , 김종준 , 이광영 , 신성혜 , 이현순 |
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| Abstract |
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Fabrys disease is and X-linked inborn error of glycos- phingolipid metabolism. The primary metabolic defect lies in the deficient tissue activities of the enzyme alpha-galactosidase A. That results in progressive accu- mulation of the specific neutral glycosphingolipids within the lysosomes of endothelial, perithelial and smooth muscle cells of the cardiovascular and renal systems predominantly. We reported Fabrys disease in two brothers who had suffered from intermittent high fever, hypohidrosis, heat stroke attacks, and pain on extremities 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%, BUN 110 mg/dl, s-creatinine 18 5 mg/dl, K 4. 4 mEq/L, Ca" 6 9 mg/dl. His visual acuity was in the range of hand motion only. Cardiomegaly with interventricular septial hypertrophy and pericar- dial effusion could be seen by chest X-ray and echocar- diography. So we dialyzed him immediately, threafter set up regular hemodialysis schedule. But Blood pres- sure 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 120/80mmHg 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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