内分泌遗传代谢性疾病专栏

果糖1,6 二磷酸酶缺乏症的遗传学诊断及突变位点分析

  • 赵银霞 ,
  •  陆彪 ,
  •  梁娟 ,
  •  刘静 ,
  •  于辛酉
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  • 宁夏医科大学总医院1 . 儿科,2 . 医学实验中心(宁夏银川 750004)

收稿日期: 2017-12-15

  网络出版日期: 2017-12-15

基金资助

宁夏自然科学基金(No.NZ17175)

Genetic diagnosis and mutation site analysis of fructose 1, 6 diphosphatase deficiency

  • ZHAO Yinxia ,
  • LU Biao ,
  • LIANG Juan ,
  • LIU Jing ,
  • YU Xinyou
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  • 1.Department of Pediatrics, 2.Department of Medical Experimental Center, General Hospital of Ningxia Medical University, Yinchuan 75004, Ningxia, China

Received date: 2017-12-15

  Online published: 2017-12-15

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。

本文引用格式

赵银霞 ,  陆彪 ,  梁娟 ,  刘静 ,  于辛酉 . 果糖1,6 二磷酸酶缺乏症的遗传学诊断及突变位点分析[J]. 临床儿科杂志, 2017 , 35(12) : 881 . DOI: 10.3969/j.issn.1000-3606.2017.12.001

Abstract

 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.355G>A, p.Asp119Asn (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.
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