DiGeorge综合征致甲状旁腺功能减退症合并低钙性心力衰竭一例  

A Case of Hypoparathyroidism With Hypocalcemic Heart Failure Caused by DiGeorge Syndrome

作　　者：连惜如 张良 郑春妃 赵文萍[1] 贾辛未[1] 王占启[1] 李向欣[1] LIAN Xiru;ZHANG Liang;ZHENG Chunfei;ZHAO Wenping;JIA Xinwei;WANG Zhanqi;LI Xiangxin(Department of Cardiology,Affiliated Hospital of Hebei University,Baoding 071000,China;School of Clinical Medicine,Hebei University,Baoding 071000,China)

机构地区：[1]河北大学附属医院心血管内科,保定071000 [2]河北大学临床医学院,保定071000

出　　处：《中国循环杂志》2025年第2期186-189,共4页Chinese Circulation Journal

摘　　要：DiGeorge(DGS)综合征是由22q11.2微缺失引起,多为儿童期起病。TBX1基因已被证实是22q11.2缺失综合征中最重要的候选基因,突变类型以该基因单倍体缺失为主。本文报道1例DGS综合征所致甲状旁腺功能减退症(甲旁减)合并低钙性心力衰竭的青年患者,基因检测发现与患者临床表型相关的致病性拷贝数变异,检出22号染色体q11.21位置约2674 kb的缺失变异,该染色体区间包含TBX1基因,为致病变异。本文探讨了DGS综合征临床特征、发病机制及目前相关治疗,强调了甲旁减的早期筛查、早期诊治、定期随访的重要性,以引起临床及遗传学医师重视。DiGeorge(DGS)syndrome is an autosomal dominant disorder caused by 22q11.2 microdeletions,most patients developed the disease in childhood.22q11.2 deletion syndrome,and the mutation types are dominated by haploid deletion of this gene.We report a young patient with hypoparathyroidism(parathyroidism)induced by DGS syndrome combined with hypocalcemic heart failure.Genetic testing revealed pathogenic copy number variants associated with the clinical phenotype of the subject.About 2674 kb of deletion variation was detected at q11.21 position on chromosome 22,which contained the TBX1 gene and was a pathogenic mutation.This paper discusses the clinical features,pathogenesis and current treatment of DGS,and emphasizes the importance of early screening,early diagnosis and treatment,and regular follow-up of heart failure,aiming to enhance the awareness of clinicians and geneticists on DGS syndrome.

关 键 词：TBX1基因 甲状旁腺功能减退症 低钙血症 心力衰竭 基因检测 

分 类 号：R54[医药卫生—心血管疾病]