因高铁血红蛋白还原酶缺乏导致的先天性发绀：首例报道的突尼斯病例。
Congenital cyanosis due to methemoglobin reductase deficiency: first reported Tunisian case.
作者信息
Hafsia R, Meddeb B, Mtimet B, Hafsia A, Galactéros F, Kaplan J C, Boussen M
机构信息
Hôpital Aziza Othmana, Service d'Hématologie, Tunis, Tunisie.
出版信息
Nouv Rev Fr Hematol (1978). 1989;31(5):371-3.
PMID:2587207
Abstract
During investigation of chronic cyanosis in a 25 year old male, after excluding pulmonary and cardiac causes, methemoglobinemia was suspected. Investigation of the activity of methemoglobin reductase clenched the diagnosis of homozygous cytochrome b5 reductase deficiency in a case of recessive congenital methemoglobin type I (absence of neurologic symptoms).
摘要
在对一名25岁男性的慢性发绀进行调查时，排除肺部和心脏病因后，怀疑是高铁血红蛋白血症。对高铁血红蛋白还原酶活性的检测确诊了一名患有隐性先天性I型高铁血红蛋白血症（无神经症状）的纯合细胞色素b5还原酶缺乏症患者。
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