Bonkovsky H L, Schned A R
Gastroenterology. 1986 Jan;90(1):191-201.
Protoporphyria was diagnosed in a 56-yr-old man based upon a typical clinical and family history, marked increases in erythrocyte and fecal protoporphyrin concentrations, and a marked decrease (21% of normal) in activity of hepatic heme synthase. Routine tests of liver function and histology were normal, except for a slight increase in bromsulphalein retention (9% at 45 min). Liver chemistries remained normal for 8 more years, but deteriorated rapidly when the patient was 63 yr old, with cholestasis precipitated by injury due to excess intake of ethanol. This, in turn, led to a defect in hepatic protoporphyrin excretion and to further worsening of liver injury due to porphyrin deposition. Our patient represents the 21st and oldest patient thus far reported to have died of liver failure complicating protoporphyria.
根据典型的临床和家族病史、红细胞和粪便中原卟啉浓度显著升高以及肝血红素合酶活性显著降低（为正常的21%），一名56岁男性被诊断为原卟啉病。除溴磺酞钠潴留略有增加（45分钟时为9%）外，肝功能和组织学的常规检查均正常。肝脏生化指标在接下来的8年中一直正常，但在患者63岁时迅速恶化，因过量摄入乙醇导致损伤，进而引发胆汁淤积。这反过来又导致肝脏原卟啉排泄缺陷，并因卟啉沉积导致肝损伤进一步恶化。我们的患者是迄今为止报道的第21例也是年龄最大的因原卟啉病并发肝衰竭而死亡的患者。
