• Proceedings of the Korean Society of Applied Pharmacology
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• 2007.11a
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• pp.32-37
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• 2007

• Childhood Kidney Diseases
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• v.20 no.2
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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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• v.11 no.1
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• pp.186-192
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• 1994

Amiodarone has a potent suppressive effect on supraventricular and ventricular dysrhythmias, so has widely used as a class III antiarrhythmic agent. However, significant side effects were noted in over 50% of patients treated. Pulmonary toxicity represents the most serious adverse raeaction limiting the clinical efficacy of this new antidysrhythmic drug. A 66-year-old male had received amiodarone 200mg/day for 7 months to control high grade ventricular premature contraction and was admitted due to dyspnea on exertion for 1 week. At the time of admission end-inspiratory crepitant rale was heard on auscultation. The roentgenogram of his chest revealed reticular and granular radioopaque densities on both lower lung fields and high resonance CT revealed interstitial fibrosis and pneumonic consolidations on the periphery of the both middle and lower lobes. Trans-bronchoscopic lung biopsy revealed nonspecific intersitial fibrosis. The laboratory findings were non-specific. We present a case of amiodarone-induced interstitial pulmonary disease clinically improved by cortico-steroid therapy.