一例NNT基因变异致家族性糖皮质激素缺乏症4型的临床与遗传学分析  

Clinical and genetic analysis of one patient with familial glucocorticoid deficiency type 4 caused by NNT gene variation

作　　者：王均林[1] 韩明英[1] 赵长娟 王淑丽[1] 乔秀英[1] 郭洋 孙美红 Wang Junlin;Han Mingying;Zhao Changjuan;Wang Shuli;Qiao Xiuying;Guo Yang;Sun Meihong(Department of Pediatrics,Linyi People's Hospital,Linyi 276000,China)

机构地区：[1]临沂市人民医院儿科,276000

出　　处：《中华内分泌代谢杂志》2024年第7期580-585,共6页Chinese Journal of Endocrinology and Metabolism

摘　　要：家族性糖皮质激素缺乏症4型(FGD4)是由尼克酰胺转氢酶(NNT)基因变异导致的1种罕见的常染色体隐性遗传病。本文收集1例FGD4患儿的临床资料、实验室检查和基因变异结果, 并回顾性分析国内外报道的FGD4患儿临床资料, 汇总基因变异类型及临床特征。本病例发现NNT基因新的变异位点, 为FGD4患儿早期诊断和早期治疗提供依据。Familial glucocorticoid deficiency type 4(FGD4)is a rare autosomal recessive disorder caused by mutations in the nicotinamide nucleotide transhydrogenase(NNT)gene.The article presented clinical data,laboratory results,and genetic mutation findings of a child with FGD4.Additionally,a retrospective analysis of the clinical data of FGD4 patients reported domestically and internationally was conducted,summarizing the types of gene mutations and clinical characteristics.This case identifies novel mutation sites in the NNT gene,providing a basis for the early diagnosis and treatment of FGD4 patients.

关 键 词：家族性糖皮质激素缺乏症 全外显子组测序 NNT基因 基因变异 

分 类 号：R725.9[医药卫生—儿科]