RPIA基因突变导致核糖-5-磷酸异构酶缺乏症1例并文献复习

A case of ribose-5-phosphate isomerase deficiency caused by RPIA gene mutation and literature review

目的报告1例核糖-5-磷酸异构酶缺乏症病儿的临床表型和基因型特点,提高对本病的认识。方法选取2019年9月在安徽省儿童医院就诊住院的1例核糖-5-磷酸异构酶缺乏症病儿的临床资料,实验室检查、影像学特点及基因检测结果,总结临床特征及基因突变谱,并行文献复习。结果病儿因“步态不稳”就诊。存在发育迟滞,检查尿有机酸提示D-阿拉伯糖醇及核糖醇异常升高。头颅MR提示双侧大脑半球白质多发片状异常信号。全外显子测序发现RPIA基因致病性变异c.622C>G(p.Q208E)、c.561C>T(p.G187G)。检索PubMed数据库,共检索到5篇英文病例报告,报告了4例核糖-5-磷酸异构酶缺乏症病儿,与本文病例合并后共5例。结论核糖-5-磷酸异构酶缺乏症主要临床特征为发育迟滞,癫痫,视听损害等,尿中多元醇水平增加及头颅磁共振脑白质异常信号,RPIA基因为致病性基因。

Objective To report the clinical phenotype and genotype characteristics of a child with ribose-5-phosphate isomerase deficiency to improve the understanding of the disease.Methods The clinical data,laboratory examination,imaging features and genetic test results of a child with ribose-5-phosphate isomerase deficiency who was admitted to Children’s Hospital of Anhui Province in September 2019 were selected,the clinical characteristics and gene mutation spectrum were summarized,and the literature was reviewed in parallel.Results The sick child was referred to the doctor because of"unsteady gait".Developmental delay was present,and examination of urinary organic acids suggested abnormally elevated levels of D-arabitol and ribitol.Brain MR showed multiple patchy abnormal signals in the white matter of bilateral cerebral hemispheres.Whole-exome sequencing revealed the RPIA gene pathogenic variants c.622C>G(p.Q208E),c.561C>T(p.G187G).After searching the Pub Med database,a total of 5 English case reports were retrieved,reporting 4 cases of ribose-5-phosphate isomerase deficiency in children,and a total of 5 cases were combined with this case.Conclusion sThe main clinical features of ribose-5-phosphate isomerase deficiency are developmental delay,epilepsy,audiovisual impairment,increased polyol levels in urine,and abnormal white matter signals on cranial magnetic resonance imaging.The RPIA gene is a pathogenic gene.