国际生殖健康/计划生育杂志2025，Vol.44Issue(5)：377-382,6.DOI:10.12280/gjszjk.20250082
果糖-1,6-二磷酸酶缺乏症基因型-表型相关性研究:一例报告及文献复习
Association Analysis of Genotype and Phenotype in Fructose-1,6-Bisphosphatase Deficiency:A Case Report and Literature Review
王华 1薛峰 2熊复 3聂小成 4罗泽民 3朱书瑶 3曾兰 4皮光环3
作者信息
- 1. 610031 成都,四川省妇幼保健院·四川省妇女儿童医院儿科||四川省南充市南部县妇幼保健计划生育服务中心儿科
- 2. 610031 成都,四川省妇幼保健院·四川省妇女儿童医院检验科
- 3. 610031 成都,四川省妇幼保健院·四川省妇女儿童医院儿科
- 4. 610031 成都,四川省妇幼保健院·四川省妇女儿童医院医学遗传与产前诊断中心
- 折叠
摘要
Abstract
Fructose-1,6-bisphosphatase deficiency(FBP1D),a rare inherited metabolic disorder,may lead to severe neurological sequelae if not treated promptly and effectively.We report a case of FBP1D diagnosed through trio-whole exome sequencing(trio-WES).The NM_000507.4(FBP1)c.977T＞C variant in this patient has not been reported in China.We summarized and analyzed the genotypic and phenotypic characteristics of 31 Chinese FBP1D patients from literature.The typical clinical manifestations included hypoglycemia,metabolic acidosis,gastrointestinal symptoms,and impaired consciousness,with the infection being the most common triggering factor.Genetic analysis revealed that the c.960dup variant in the FBP1 gene is the most prevalent variant among Chinese patients.Enhancing clinicians' awareness of FBP1D can facilitate early diagnosis and active intervention,thereby significantly improve patient prognosis.关键词
果糖-1,6-二磷酸酶缺乏/低血糖症/酸中毒/全外显子组测序/FBP1基因Key words
Fructose-1,6-diphosphatase deficiency/Hypoglycemia/Acidosis/Whole exome sequencing/FBP1 gene引用本文复制引用
王华,薛峰,熊复,聂小成,罗泽民,朱书瑶,曾兰,皮光环..果糖-1,6-二磷酸酶缺乏症基因型-表型相关性研究:一例报告及文献复习[J].国际生殖健康/计划生育杂志,2025,44(5):377-382,6.
