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

Abstract: 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.

Key words:

Hypoparathyroidism, TBX1, Heart, Nervous system, Pharynx and alate development, Child