1例甲状旁腺功能减退症的临床特征及遗传学特征分析  

Analysis of the clinical and genetic characteristics of a case of hypoparathyroidism

作　　者：张雪松[1] 刘建丽[1] ZHANG Xuesong;LIU Jianli(Department of Pediatric Endocrinology,Tangshan Maternal and Child Health Care Hospital,Tangshan 063000,China)

机构地区：[1]唐山市妇幼保健院小儿内分泌科,河北唐山063000

出　　处：《中国中西医结合儿科学》2024年第3期238-242,共5页Chinese Pediatrics of Integrated Traditional and Western Medicine

摘　　要：回顾性分析唐山市妇幼保健院小儿内分泌科收治的1例甲状旁腺功能减退症患儿的临床资料、实验室检查及基因诊断结果。患儿,男,11岁,由“无热抽搐1个月”来诊,实验室检查可见低钙血症、甲状旁腺素减低、心电图Q-T间期延长、颅内钙化,诊断甲状旁腺功能减退症明确,全外显子检测结果显示TBX1基因:c.1009G>A(错义变异、新生变异),结合临床表现考虑为致病基因。儿童甲状旁腺功能减退症常表现为惊厥、手足搐搦,并因遗传学病因不同而伴随相应的症状,基因检测不仅有利于精准的遗传学病因诊断,还有助于深入认识临床表型与基因型的对应关系,提高临床医生对该疾病的认识。The clinical data,laboratory examination and genetic diagnosis results of a case of hypoparathyroidism were retrospectively analyzed,who was admitted to the Department of Pediatric Endocrinology of Tangshan maternal and Child Health Care Hospital.The child,male,aged 11 years,visited the pediatrician due to"convulsions without fever for 1 month".Laboratory examination showed hypocalcemia,decreased PTH,prolonged Q-T interval and intracranial calcification,and the diagnosis of hypoparathyroidism was confirmed.The results of whole exome sequencing showed TBX1 gene:c.1009G>A(missense variant,novel variant),which was considered as a pathogenic gene based on clinical manifestation.Children with hypoparathyroidism often present convulsion and tetany,often accompanied by the corresponding symptoms because of the different genetic causes.Genetic detection not only benefits the accurate diagnosis of genetic causes,but also helps to further understand the relationship between clinical phenotype and genotype,thus improving the understanding of the disease in clinicians.

关 键 词：甲状旁腺功能减退症 TBX1基因 心脏 神经系统 咽腭发育 儿童 

分 类 号：R725.8[医药卫生—儿科]