摘要
目的探讨果糖1,6二磷酸酶缺乏症的遗传学诊断及致病基因的突变位点分析。方法回顾1例果糖1,6二磷酸酶缺乏症患儿的临床资料及相关基因的panel筛选结果。结果 2岁女孩,反复感染后出现恶心、呕吐、精神差及嗜睡,伴有间断抽搐。血生化检查示低血糖症、酸中毒;FBP1基因存在错义变异c.355G>A,p.Asp119Asn(纯合),父母均携带该位点变异(杂合)。结论对于反复感染后出现发作性低血糖、酸中毒的患儿,需考虑果糖1,6二磷酸酶缺乏症的可能。
Objectives To explore the genetic diagnosis of fructose 1,6 diphosphatase deficiency and analysis of mutation sites of its pathogenic genes. Methods The clinical data and the related results of gene panel screening in one child with fructose 1, 6 diphosphatase(FBPase) deficiency were retrospectively reviewed. Results The 2-year-old girl suffered repeated infection, nausea, vomiting, mental illness, and drowsiness, accompanied by intermittent convulsions. Blood biochemical tests sμggested hypoglycemia and acidosis. The FBP1 gene had a missense mutation, c.355 G>A, p.Asp119 Asn(isozygoty). Both her parents carried the locus variation(heterozygous). Conclusions Fructose 1, 6 diphosphatase deficiency should be considered when child with hypoglycemia after repeated infection, acidosis, and ketosis.
出处
《临床儿科杂志》
CSCD
北大核心
2017年第12期881-884,共4页
Journal of Clinical Pediatrics
基金
宁夏自然科学基金(No.NZ17175)
