• 한국응용약물학회:학술대회논문집
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• 한국응용약물학회 2007년도 Proceedings of The Convention
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• pp.32-37
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• 2007

• Childhood Kidney Diseases
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• 제20권2호
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• pp.79-82
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• 2016

Fabry disease is an X-linked lysosomal storage disorder caused by a deficiency of the enzyme ${\alpha}-galactosidase$ A, resulting in the accumulation of glycosphingolipids within the lysosomes of various cell types. It has a wide spectrum of clinical phenotypes, and renal failure is a serious complication. Fabry disease is confirmed either by measurement of ${\alpha}-galactosidase$ A activity or by genetic testing for GLA mutations. Renal biopsy findings on light microscopy, specifically enlarged podocytes with foamy cytoplasm, and osmiophilic inclusion bodies in the cytoplasm in all types of renal cells on electron microscopy, are characteristic of this disease. The predominant differential diagnosis is iatrogenic phospholipidosis in association with certain drugs that can cause cellular injuries indistinguishable from Fabry disease. Here, we report the case of a 10-year-old boy with microscopic hematuria who underwent a renal biopsy that showed morphological findings consistent with Fabry disease, although the patient had neither a GLA mutation nor a history of drug consumption. Six years later, spontaneous regression of this renal pathology was observed in a second renal biopsy examination.

• Journal of Yeungnam Medical Science
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• 제11권1호
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• pp.186-192
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• 1994

저자들은 Lown grade IVa의 심실성 기외 수축으로 진단 받고, amiodarone을 약 7개월간 투여 받은 환자에서 amiodarone으로 야기된 간질성 폐질환의 1례를 경험하였기에 그 휘기성에 비추어 문헌 고찰과 함께 보고하는 바이다.