Frank M, Doss M O
Abteilung Klinische Biochemie, Philipps-Universität Marburg.
Z Gastroenterol. 1995 Jul;33(7):399-403.
Protoporphyria is an important differential diagnosis in patients with jaundice and cutaneous photosensitivity. In 1975 erythropoietic protoporphyria and liver damage of unknown origin were diagnosed in a 24 year old patient with photosensibility since early childhood. Laparoscopic liver biopsy confirmed protoporphyrin-associated liver cirrhosis in 1983. Therapy with ursodeoxycholic acid was initiated and liver function was stable during an 18 month period. In december 1989 the patient developed severe intrahepatic cholestasis with rapid deterioration of liver function. Liver transplantation was performed in 1990. The patient is now five years after transplantation in an excellent clinical condition. This 20 year observation period gives insight in the pathogenesis of protoporphyrin-induced hepatobiliary complications in a latent and overt phase. The relevant diagnostic and prognostic porphyrin parameters and therapy of protoporphyric liver disease are discussed.
原卟啉病是黄疸和皮肤光敏患者的重要鉴别诊断。1975年，一名自幼患有光敏性的24岁患者被诊断为红细胞生成性原卟啉病和不明原因的肝损伤。1983年腹腔镜肝活检证实为原卟啉相关肝硬化。开始使用熊去氧胆酸治疗，在18个月期间肝功能稳定。1989年12月，患者出现严重的肝内胆汁淤积，肝功能迅速恶化。1990年进行了肝移植。患者目前移植后五年，临床状况良好。这20年的观察期有助于深入了解原卟啉诱导的肝胆并发症在潜伏期和显性期的发病机制。讨论了原卟啉性肝病的相关诊断和预后卟啉参数及治疗方法。
