DiGeorge综合征伴甲状腺功能亢进1例并文献复习

发布时间：2018-03-09 19:40

本文选题：DiGeorge综合征　切入点：甲状腺功能亢进　出处：《中国循证儿科杂志》2017年03期 　论文类型：期刊论文

【摘要】：目的探讨DiGeorge综合征(DGS)合并甲状腺功能亢进(甲亢)患儿的临床特点,提高对该病的认识。方法报告1例DGS合并甲亢患儿的症状、辅助检查结果、外周血基因组DNA染色体芯片结果、治疗和随访情况;在相关期刊论文(CNKI)和PubMed中检索DGS合并甲亢患儿的文献,检索时间为建库至2017年5月31日,总结DGS合并甲亢患儿的临床特征及其与遗传学异常的关联。结果患儿女,12岁,因"1年内抽搐发作2次,发现甲状腺功能异常4月"于2016年12月就诊于浙江大学医学院附属第一医院儿科。患儿有低钙抽搐、甲亢、身材矮小、智力异常、贫血和慢性中耳炎等多系统异常。染色体芯片检测结果显示22q11.21微缺失,缺失2 512 kb,基因组中位置18919095-21431174(hg19),诊断为DGS伴甲亢,予甲巯咪唑片(bid,起始为10 mg,2 d后改为5 mg)和补钙等对症治疗,血钙至正常范围后出院并继续口服甲巯咪唑片(5 mg,qd),出院3、6个月电话随访无抽搐发作。在PubMed中共检索到10篇英文文献报告了17例DGS合并甲亢患儿,病情不一,累及系统较多。结论 DGS临床表现多样,累及系统广泛,易误诊、漏诊和迟诊。对原发性甲状旁腺功能减退患儿,建议行染色体芯片分析并评估甲状腺功能。
[Abstract]:Objective to investigate the clinical characteristics of children with DiGeorge syndrome combined with hyperthyroidism (hyperthyroidism) and to improve the understanding of the disease. Methods A case of DGS with hyperthyroidism was reported. The results, treatment and follow-up of genomic DNA chromosome microarray in peripheral blood were used to search the literature of children with DGS and hyperthyroidism in Chinese Journal Full-text Database (CNKI) and PubMed, and the search time was from May 31st 2017 to May 31st 2017. To summarize the clinical features of children with DGS and hyperthyroidism and their association with genetic abnormalities. The abnormal thyroid function was found in December 2016 in Pediatrics of the first affiliated Hospital of Zhejiang University School of Medicine. The children had hypocalcemia, hyperthyroidism, short stature and abnormal intelligence. The results of chromosome microarray analysis showed that 22q11.21 microdeletion, deletion of 2 512 kb, genome location of 18919095-21431174 Hg19, was diagnosed as DGS with hyperthyroidism. They were treated with methimazole tablet bid, starting at 10 mg / 2 d, then changed to 5 mg / 2) and supplemented with calcium. The patients were discharged from the hospital after the blood calcium reached the normal range and continued to take captopril tablets 5 mg / g QD, and no convulsive seizures were found after 3 and 6 months' telephone follow-up. 17 cases of DGS complicated with hyperthyroidism were found in 10 English literatures in PubMed. Conclusion DGS is characterized by multiple clinical manifestations, extensive involvement, misdiagnosis, missed diagnosis and delayed diagnosis. For children with primary hypoparathyroidism, chromosome microarray analysis and evaluation of thyroid function should be performed.
【作者单位】：浙江大学医学院附属第一医院儿科;
【基金】：浙江省医药卫生科技计划项目:2016ZHA004
【分类号】：R725

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