신경 및 위장관 증세를 동반한 Erythropoietic Protoporphyria 환아 1예
A Case of Erythropoietic Protoporphyria with Severe Liver Dysfunction and Neurological Symptoms
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초록
본 저자들은 심한 간 부전과 함께 복통, 구토, 의식 변화, 사지 마비, 배뇨 장애 및 호흡부전을 동반한 EPP 예를 경험하였기에 보고하는 바이다.
Abstract
Erythropoietic protoporphyria is a genetic disorder due to a deficiency of ferrochelatase resulting in excessive accumulation and excretion of protoporphyrin. The predominant clinical feature is photosensitivity. Severe hepatic failure occurs in a small percentage of patients, and neurological symptoms are very rare. We report a case of erythropoietic protoporphyria associated with severe hepatic dysfunction and neurological symptoms. A 9-year-old girl presented with severe abdominal pain, nausea, weakness and pain of extremities, and urinary retention. Ultrasonogram and abdominal CT scanning revealed a diffuse infiltrated and enlarged liver. Liver biopsy showed deposition of dense dark brown pigment within the bile, hepatocytes and Kupffer cells. Plus, dense dark brown deposits gave a red birefringent under polarize light. Porphyrin studies demonstrated markedly elevated serum free erythrocyte protoporphyrin. This girl was diagnosed as erythropoietic protoporphyria with severe liver dysfunction and neurological symptoms
참고문헌 (17)
- Kauppinen R, "Porphyrias", 365, pp.241~52 (2005)
- Thadani H, "Diagnosis and management of porphyria BMJ 2000", 320, pp.1647~51 (2000)
- Gross U, "Erythropoietic and hepatic porphyrias", 23, pp.641~61 (2000)
- Murphy GM, "Diagnosis and management of the erythropoietic porphyrias", 16, pp.57~64 (2003)
- Rank JM, "Evidence for neurological dysfunction in end-stage protoporphyric liver disease", 18, pp.1404~9 (1993)
- Komatsu K, "Erythropoietic protoporphyria with severe liver dysfunction and acute pancreatitis", 35, pp.391~5 (2000)
- Muley SA, "Neuropathy in erythropoietic protoporphyrias unusual skin and neurological problems after liver transplantation", pp.262 1753~5 7
- Anderson KE, "Disorders of heme biosynthesis The metabolic and molecular bases of inherited disease", pp.2991~3062 (2001), McGraw-Hill
- 봉하욱, "적혈구 조혈성 프로토포르피린증 1예", 31, pp.817~22 (1993)
- 황종석, "선천성 적혈구 조혈성 포르피린증 1예", 23, pp.686~90 (1985)
- 김성화, "만발성 포르피린증 4예", 21, pp.421~7 (1983)
- 한영철, "소아의 급성 간성 포르피리아 1예", 31, pp.253~7 (1988)
- Ahmed I, "Childhood porphyrias", 77, pp.825~36 (2002)
- Goerz G, "Ferrochelatase activities in patients with erythropoietic protoporphyria and their families", 134, pp.880~5 (1996)
- Todd DJ, "Erythropoietic protoporphyria", 131, pp.751~66 (1994)
- Maheshwari A, "Patients with autonomic neuropathy are more likely to develop hepatic encephalopathy", 49, pp.1584~8 (2004)
- Maheshwari A, "Patients with autonomic neuropathy are more likely to develop hepatic encephalopathy", 49, pp.1584~8 (2004)