중증 간질환을 동반한 적혈구조혈성 포르피린증 환자에서의 cholestyramine 치료: 사례보고
Cholestyramine resin for erythropoietic protoporphyria with severe hepatic disease: a case report
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초록
EPP는 ferrochelatase의 결핍이나 활성 감소로 프로토포르피린이 적혈구, 간, 혈장 등에 축적되는 유전질환이다 축적된 프로토포르피린은 EPP의 주된 임상적 특징인 광과민 증상과 간질환을 일으키게 된다. EPP로 인한 간질환에 대해 다양한 치료법이 개발되고 있으나, 효과적인 치료 방법은 아직 없다. 그 중 cholestyramine resion의 유용성에 대한 보고는 드물며, 다른 치료와 같이 대부분 사용되었다. 저자들은 cholestyramine resion의 단독치료로 성공적인 결과를 나타낸 사례를 보고하는 바이다. 향후 EPP로 인한 간질환의 증상 및 예후 개선을 위해서, 이번 사례를 포함한 더 많은 연구가 필요하다.
Abstract
Erythropoietic protoporphyria (EPP) is a rare disorder of heme biosynthesis caused by mutations in the gene encoding the enzyme ferrochelatase. In EPP, deficient ferrochelatase activity leads to the excessive production and biliary excretion of protoporphyrin (PP). The major clinical features of EPP are photosensitivity and hepatobiliary disease that may progress to severe liver disease, that are caused by the toxicity of PP. EPP-related liver disease has been treated medically or surgically including liver transplantation. We described a 20-year-old male with severe liver disease who was diagnosed with EPP based on clinical and laboratory findings. He was treated with cholestyramine resin. Six months after the treatment, he was doing well without any abdominal pain or photosensitivity.
참고문헌 (21)
- Whitcombe DM, "Assignment of the human ferrochelatase gene (FECH) and a locus for protoporphyria to chromosome 18q22", Genomics, 11, pp.1152~1154 (1991)
- Lamoril J, "Human erythropoietic protoporphyria: two point mutations in the ferrochelatase gene", Biochem Biophys Res Commun, 181, pp.594~599 (1991)
- Bonkowsky HL, "Heme synthetase deficiency in human protoporphyria. Demonstration of the defect in liver and cultured skin fibroblasts", J Clin Invest, 56, pp.1139~1148 (1975)
- Poh-Fitzpatrick MB, "Molecular and cellular mechanisms of porphyrin photosensitization", Photodermatol, 3, pp.148~157 (1986)
- Bloomer J, "Molecular studies of liver disease in erythropoietic protoporphyria", J Clin Gastroenterol, 39, pp.S167~S175 (2005)
- Anstey AV, "Liver disease in erythropoietic protoporphyria: insights and implications for management", Gut, 56, pp.1009~1018 (2007)
- Eefsen M, "Erythropoietic protoporphyria and pretransplantation treatment with nonbiological liver assist devices", Liver Transpl, 13, pp.655~657 (2007)
- McGuire BM, "Liver transplaantation for erythropoietic protoporphyria liver disease", Liver Transpl, 11, pp.1590~1596 (2005)
- 김보현, "신경 및 위장관 증세를 동반한 Erythropoietic Protoporphyria 환아 1예", 대한소아소화기영양학회지, 8(2), pp.263~268 (2005), 대한소아소화기영양학회
- Kim DM, "A case of hepatitis due to erythropoietic protoporphyria", Korean J Intern Med, 43, pp.416~422 (1992)
- Schneider-Yin X, "New insights into the pathogenesis of erythropoietic protoporphyria and their impact on patient care", Eur J Pediatr, 159, pp.719~725 (2000)
- Doss MO, "Hepatobiliary implications and complications in protoporphyria, a 20-year study", Clin Biochem, 22, pp.223~229 (1989)
- Meerman L, "Erythropoietic protoporphyria. An overview with emphasis on the liver", Scand J Gastroenterol Suppl, pp.79~85 (2000)
- Sperl J, "N-acetyl cysteine averted liver transplantation in a patient with liver failure caused by erythropoietic protoporphyria", Liver Transpl, 15, pp.352~354 (2009)
- Wells MM, "Erythropoietic protoporphyria with hepatic cirrhosis", Arch Dermatol, 116, pp.429~432 (1980)
- Cox TM, "Protoporphyria", Semin Liver Dis, 18, pp.85~93 (1992)
- Gross JB Jr, "The evolution of changes in quantitative liver function tests in a rat model of biliary cirrhosis: correlation with morphometric measurement of hepatocyte mass", Hepatology, 7, pp.457~463 (1987)
- Pimstone NR, "Enterohepatic circulation of porphyrins in man: dose this exist", Hepatology, 2, pp.718~ (1982)
- Stathers GM, "Porphyrin-binding effect of cholestyramine: results of in vitro and in vivo studies", Lancet, pp.780~782 (1966)
- McCullough AJ, "Fecal protoporphyrin excretion in erythropoietic protoporphyria: effect of cholestyramine and bile acid feeding", Gastroenterology, 94, pp.177~181 (1988)
- Bloomer JR, "Pathogenesis and therapy of liver disease in protoporphyria", Yale J Biol Med, 52, pp.39~48 (1979)