Samuel D, Boboc B, Bernuau J, Bismuth H, Benhamou J P
Service de Chirurgie Hépato-Biliaire, Hôpital Paul Brousse, Villejuif, France.
Gastroenterology. 1988 Sep;95(3):816-9.
Protoporphyria is an inherited disorder of heme biosynthesis characterized by an overproduction of protoporphyrin in the erythropoietic and hepatic tissues, the relative contribution of which in the metabolic disorder has not been directly quantitated. Excess protoporphyrin is eliminated solely by the liver into the bile and feces. We describe the case of a patient with protoporphyria complicated by severe cirrhosis in whom liver transplantation was performed and resulted in almost complete disappearance of skin photosensitivity manifestations and reduction in the level of protoporphyrin in erythrocytes. However, the level of protoporphyrin in feces was not markedly different before and after liver transplantation, which suggests that overproduction of protoporphyrin was unchanged. These findings are consistent with the view that the diseased liver and ensuing low hepatic clearance of protoporphyrin contributed to accumulation of protoporphyrin in the body and that, at least in this patient, the role of the hepatic tissue in the overproduction of protoporphyrin was small in comparison with that of the erythropoietic tissue.
原卟啉症是一种遗传性血红素生物合成障碍疾病，其特征是红细胞生成组织和肝组织中原卟啉过度生成，而在这种代谢紊乱中其相对作用尚未直接定量。过量的原卟啉仅通过肝脏排入胆汁和粪便中。我们描述了一例患有原卟啉症并伴有严重肝硬化的患者，该患者接受了肝移植，结果皮肤光敏表现几乎完全消失，红细胞中原卟啉水平降低。然而，肝移植前后粪便中原卟啉水平并无明显差异，这表明原卟啉的过度生成没有改变。这些发现与以下观点一致，即患病肝脏及随之而来的原卟啉肝脏清除率降低导致原卟啉在体内蓄积，并且至少在该患者中，肝组织在原卟啉过度生成中的作用与红细胞生成组织相比很小。
