一种与I型隐性先天性高铁血红蛋白血症相关的NADH - 细胞色素b5还原酶新的L218P突变。

A novel L218P mutation in NADH-cytochrome b5 reductase associated with type I recessive congenital methemoglobinemia.

作者信息

Arikoglu Tugba, Yarali Nese, Kara Abdurrahman, Bay Ali, Bozkaya Ikbal O, Tunc Bahattin, Percy Melanie J

机构信息

Department of Pediatric Hematology, Dr. Sami Ulus Children's Health Education and Research Hospital, Ankara, Turkey.

出版信息

Pediatr Hematol Oncol. 2009 Jul-Aug;26(5):381-5. doi: 10.1080/08880010902979233.

DOI:10.1080/08880010902979233

PMID:19579085

Abstract

The presence of central cyanosis that is unrelated to cardiopulmonary causes alerts clinicians to a possible diagnosis of methemoglobinemia. Congenital methemoglobinemia due to deficiency of nicotinamide-adenine dinucleotide (NADH)-cytochrome b5 reductase (cb(5)r) is an autosomal recessive disorder characterized by life long cyanosis. Here we report a six-year old boy who presented with central cyanosis and upon examination revealed a methemoglobin level of 19.0%. Sequencing the CYB5R3 gene identified a homozygous T-->C transition at base c.653, which changed codon 218 from leucine to proline (L218P) in cb(5)r protein. Treatment with ascorbic acid relieved the cyanosis and returned methemoglobin levels to normal.

摘要

与心肺病因无关的中枢性发绀提示临床医生可能诊断为高铁血红蛋白血症。由于烟酰胺腺嘌呤二核苷酸（NADH）-细胞色素b5还原酶（cb(5)r）缺乏导致的先天性高铁血红蛋白血症是一种常染色体隐性疾病，其特征为终生发绀。在此，我们报告一名6岁男孩，他出现中枢性发绀，检查发现高铁血红蛋白水平为19.0%。对CYB5R3基因进行测序，在碱基c.653处鉴定出纯合的T→C转换，该转换使cb(5)r蛋白中的第218位密码子由亮氨酸变为脯氨酸（L218P）。用抗坏血酸治疗可缓解发绀并使高铁血红蛋白水平恢复正常。