Imerslund-Gr?sbeck综合征1例临床和基因突变分析

Clinical features and genetic analysis of Imerslund-Gr?sbeck syndrome: a case report and literature review

目的探讨Imerslund-Grasbeck综合征(IGS)的临床特点、遗传机制。方法回顾1例IGS患儿的临床资料,并结合文献进行分析。结果患儿,男,3岁11个月,表现为营养不良、运动发育迟缓。实验室检查示血红蛋白77 g/L,平均红细胞体积102.2 fl,平均红细胞血红蛋白含量35.2 pg,平均红细胞血红蛋白浓度344 g/L,血维生素B1269 pg/mL,24小时尿蛋白529.1 mg。基因测序结果显示患儿AMN基因存在c.742C>T(p.Q 248*)纯合突变,Sanger测序验证患儿父母均携带AMN基因c.742C>T(p.Q248*)杂合突变。明确诊断IGS。定期予维生素B12肌注治疗,监测血常规示三系正常,尿蛋白-^++,大运动发育追赶至同龄儿。结论对于巨幼红细胞性贫血合并轻中度良性蛋白尿的患儿,需考虑IGS可能,基因检测有助明确诊断。

Objective To investigate the clinical characteristics and genetic mechanism of Imerslund-Grasbeck syndrome(IGS).Methods The clinical data and genetic test of a patient with IGS were collected and analyzed retrospectively.Related literatures were reviewed.Results The patient presented with malnutrition,exercise retardation,megaloblastic anemia,vitamin B12 deficiency,and mild-moderate benign proteinuria.Whole exome sequencing identified a homozygous c.742C>T(p.Q248*)mutation of the AMN gene in the patient.Sanger sequencing found both of his parents are heterozygous carriers.Conclusion For children with megaloblastic anemia complicated with mild to moderate benign proteinuria,the possibility of IGS should be considered.