序贯肝和骨髓移植治疗红细胞生成性原卟啉症。
Sequential liver and bone marrow transplantation for treatment of erythropoietic protoporphyria.
作者信息
Rand Elizabeth B, Bunin Nancy, Cochran William, Ruchelli Eduardo, Olthoff Kim M, Bloomer Joseph R
机构信息
Department of Pediatrics, University of Pennsylvania, Children's Hospital of Philadelphia, 324 S 34th St, Philadelphia, PA 19104, USA.
出版信息
Pediatrics. 2006 Dec;118(6):e1896-9. doi: 10.1542/peds.2006-0833. Epub 2006 Oct 30.
Erythropoietic protoporphyria is a disorder of heme synthesis in which deficient ferrochelatase activity leads to excess production and biliary excretion of protoporphyrin. The main clinical features, photosensitivity and hepatobiliary disease that may progress to liver failure, are caused by the toxicity of protoporphyrin. Liver transplantation has been used to treat liver failure in erythropoietic protoporphyria, but excess production of protoporphyrin by the bone marrow continues causing recurrence of liver disease in the majority of patients. This is the first report of successful sequential liver and bone marrow transplantation in a patient with liver failure as a result of erythropoietic protoporphyria. This combination corrected the severe phenotype, resolving the severe photosensitivity and halting erythropoietic protoporphyria associated liver graft injury. Splenectomy seemed to facilitate the successful bone marrow transplant.
红细胞生成性原卟啉病是一种血红素合成障碍疾病,其中亚铁螯合酶活性不足导致原卟啉产生过多并经胆汁排泄。主要临床特征,即可能进展为肝衰竭的光敏性和肝胆疾病,是由原卟啉的毒性引起的。肝移植已被用于治疗红细胞生成性原卟啉病所致的肝衰竭,但骨髓中原卟啉的过量产生在大多数患者中持续导致肝病复发。这是首例关于成功序贯进行肝移植和骨髓移植治疗因红细胞生成性原卟啉病导致肝衰竭患者的报告。这种联合治疗纠正了严重的表型,解决了严重的光敏性问题,并阻止了与红细胞生成性原卟啉病相关的肝移植损伤。脾切除术似乎有助于骨髓移植成功。