红细胞生成性卟啉病的诊断与管理

Diagnosis and management of the erythropoietic porphyrias.

作者信息

Murphy Gillian M

机构信息

Photobiology Unit, Beaumont Hospital, Dublin, Ireland.

出版信息

Dermatol Ther. 2003;16(1):57-64. doi: 10.1046/j.1529-8019.2003.01609.x.

DOI:10.1046/j.1529-8019.2003.01609.x

PMID:12919128

Abstract

The erythropoietic porphyrias are erythropoietic protoporphyria, and congenital erythropietic porphyria. Diagnosis is made based on clinical manifestations, and their characteristic porphyrin profiles. There are multiple treatment options for these two porphyrias, however, aside from bone marrow transplant for CEP, none is curative.

摘要

红细胞生成性卟啉病包括红细胞生成性原卟啉病和先天性红细胞生成性卟啉病。诊断基于临床表现及其特征性卟啉谱。这两种卟啉病有多种治疗选择，然而，除了针对先天性红细胞生成性卟啉病的骨髓移植外，没有一种是治愈性的。