Wagner S, Doss M O, Wittekind C, Bäcker U, Meessen D, Schmidt F W
Abteilung für Gastroenterologie und Hepatologie, Medizinischen Hochschule Hanover.
Dtsch Med Wochenschr. 1989 Nov 24;114(47):1837-41. doi: 10.1055/s-2008-1066836.
A 49-year-old man, known to have had an increased light sensitivity since childhood, was admitted to hospital because of jaundice. Biochemical and morphological examination revealed cirrhosis of the liver with cholestasis. There was a 70-fold increase of protoporphyrin content in the erythrocytes, increased fecal protoporphyrin excretion as well as secondary coproporphyrinuria. Despite symptomatic treatment with ursodeoxycholic acid and cholestyramine hepatic failure ensued for which orthotopic liver transplantation was performed five months after the diagnosis had been made. The patient died two months later of treatment-resistant septicaemia and multiorgan failure. This case demonstrates the need for annual monitoring of liver functions and porphyrin parameters to ensure earliest possible diagnosis of hepatic involvement in erythrohepatic protoporphyria.
一名49岁男性，自幼已知对光线敏感增加，因黄疸入院。生化和形态学检查显示为伴有胆汁淤积的肝硬化。红细胞中原卟啉含量增加70倍，粪便原卟啉排泄增加以及继发性粪卟啉尿。尽管使用熊去氧胆酸和考来烯胺进行了对症治疗，但仍发生了肝衰竭，在诊断后五个月进行了原位肝移植。患者两个月后死于难治性败血症和多器官功能衰竭。该病例表明需要每年监测肝功能和卟啉参数，以确保尽早诊断红细胞生成性原卟啉症的肝脏受累情况。
