以甲状旁腺功能减退为表型的DiGeorge综合征1例及文献复习

A case of DiGeorge syndrome with hypoparathyroidism as a phenotype and review of literature

目的探索22q11.2微缺失综合征的临床表型及治疗经验。方法总结兰州大学第一医院儿内科2020年6月收治的1例以甲状旁腺功能减退为表型的DiGeorge综合征的诊治过程,并复习总结国内外相关病例的诊疗过程。结果病儿主诉间断可疑抽搐10余天。入院完善相关检查以及基因检测后,诊断为DiGeorge综合征伴甲状旁腺功能减退、继发性癫痫;经给予钙剂、骨化三醇及左乙拉西坦等对症治疗,病儿病情好转后出院,院外随访半年内病儿无抽搐发作。结论补钙是目前治疗以甲状旁腺功能减退为表型的DiGeorge综合征的关键措施。

Objective To explore the clinical phenotype and treatment experience of 22q11.2 microdeletion syndrome.Methods The diagnosis and treatment process of a case of DiGeorge syndrome with hypoparathyroidism as phenotype admitted to the Department of Pediatrics,the First Hospital of Lanzhou University in June 2020 were summarized,and literature regarding the diagnosis and treatment process of related cases at home and abroad were reviewed.Results The child complained of intermittent suspicious convulsions for more than 10 days.After completion of relevant examinations and genetic tests,she was diagnosed as DiGeorge syndrome with hypoparathyroidism and secondary epilepsy.After receiving symptomatic treatment such as calcium,calcitriol and levetiracetam,the patient was discharged after improvement of condition.During the six-month out-of-hospital follow-up,the child did not have convulsions.Conclusion Calcium supplementation is the key measure for the treatment of DiGeorge syndrome with hypoparathyroidism.