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

被引：6

作者：

Ben Fredj, D. ^{[1
]}

Barro, C. ^{[2
]}

Joly, P. ^{[3
]}

Thomassin, N. ^{[4
]}

Collardeau-Frachon, S. ^{[5
]}

Plantaz, D. ^{[6
]}

Adjaoud, D. ^{[6
]}

机构：

[1] Grenoble Alpes Univ Hosp, Dept Pediat, CS 10217, F-38043 Grenoble 09, France

[2] Grenoble Alpes Univ Hosp, Inst Biol & Pathol, Dept Biol Hematol, CS 10217, F-38043 Grenoble 09, France

[3] Hosp Civils Lyon, Ctr Biol Pathol Est, Grp Hosp Est, Haemoglobinopathies Lab,Biochem Mol Biol, 59 Blvd Pinel, F-69677 Bron, France

[4] Grenoble Alpes Univ Hosp, Dept Pediat Gastroenterol, CS 10217, F-38043 Grenoble 09, France

[5] Hosp Civils Lyon, Ctr Biol Pathol Est, Grp Hosp Est, 59 Blvd Pinel, F-69677 Bron, France

[6] Grenoble Alpes Univ Hosp, Dept Pediat Oncoimmunohematol, CS 10217, F-38043 Grenoble, France

来源：

ARCHIVES DE PEDIATRIE | 2019年 / 26卷 / 06期

关键词：

G6PD deficiency; Cholestasis; Liver insufficiency; Hyperbilirubinemia; New mutation; Hemolysis; G6PD MUTATIONS;

D O I：

10.1016/j.arcped.2019.05.005

中图分类号：

R72 [儿科学];

学科分类号：

100202 ;

摘要：

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. (C) 2019 Published by Elsevier Masson SAS on behalf of French Society of Pediatrics.

引用

页码：370 / 373

页数：4