因新突变导致葡萄糖-6-磷酸脱氢酶缺乏的婴儿出现短暂性肝损伤和严重新生儿胆汁淤积症

Transient liver injury and severe neonatal cholestasis in infant with glucose-6-phosphate dehydrogenase deficiency due to a new mutation.

作者信息

Ben Fredj D, Barro C, Joly P, Thomassin N, Collardeau-Frachon S, Plantaz D, Adjaoud D

机构信息

CS 10217, department of Pediatrics, Grenoble Alpes University Hospital, 38043 Grenoble cedex 09, France.

CS 10217, department of Biological Hematology, institut de biologie et pathologie, Grenoble Alpes University Hospital, 38043 Grenoble cedex 09, France.

出版信息

Arch Pediatr. 2019 Sep;26(6):370-373. doi: 10.1016/j.arcped.2019.05.005. Epub 2019 Jul 2.

DOI:10.1016/j.arcped.2019.05.005

PMID:31278024

Abstract

We report the case of a neonate with a new, previously undescribed, glucose-6-phosphate dehydrogenase (G6PD) gene mutation, which was revealed by severe cholestasis, hyperbilirubinemia, and transient liver dysfunction. The severity of the clinical phenotype with ongoing chronic hemolytic anemia suggests that this mutation belongs to class 1 G6PD deficiency. The hemizygous mutation «c.675G>c; p.Trp225Cys» was detected by genomic sequencing. Since severe G6PD deficiency can be revealed by cholestasis, it is important to check G6PD enzyme activity when faced with a case of liver dysfunction in the neonatal period.

摘要

我们报告了一例新生儿病例，该患儿存在一种新的、此前未被描述过的葡萄糖-6-磷酸脱氢酶（G6PD）基因突变，该突变是通过严重胆汁淤积、高胆红素血症和短暂性肝功能障碍发现的。伴有持续性慢性溶血性贫血的临床表型严重程度表明，这种突变属于1类G6PD缺乏症。通过基因组测序检测到半合子突变“c.675G>c；p.Trp225Cys”。由于严重的G6PD缺乏症可通过胆汁淤积表现出来，因此在新生儿期遇到肝功能障碍病例时，检查G6PD酶活性很重要。