Erythropoietic protoporphyria

被引：47
作者：
Cox, TM
机构：
来源：
JOURNAL OF INHERITED METABOLIC DISEASE | 1997年 / 20卷 / 02期
基金：
英国惠康基金;
关键词：
D O I：
10.1023/A:1005317124985
中图分类号：
R5 [内科学];
学科分类号：
1002 ; 100201 ;
摘要：
Partial deficiency of the last enzyme of haem biosynthesis, ferrochelatase, leads to a distinct syndrome of photosensitivity caused by overproduction of protoporphyrin by erythropoietic tissue. Erythropoietic protoporphyria has an indeterminate pattern of inheritance and may be complicated by fulminating liver disease. The recent development of simple assays for ferrochelatase activity and cloning of the human ferrochelatase gene promises to shed light on the transmission of this disorder and may allow clinical expression of disease to be predicted. This review surveys the pathological features, genetics and treatment of porphyria.
引用
收藏
页码：258 / 269
页数：12
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