本文選題：DiGeorge綜合征　切入點：甲狀腺功能亢進　出處：《中國循證兒科雜志》2017年03期 　論文類型：期刊論文

【摘要】：目的探討DiGeorge綜合征(DGS)合并甲狀腺功能亢進(甲亢)患兒的臨床特點,提高對該病的認識。方法報告1例DGS合并甲亢患兒的癥狀、輔助檢查結(jié)果、外周血基因組DNA染色體芯片結(jié)果、治療和隨訪情況;在相關(guān)期刊論文(CNKI)和PubMed中檢索DGS合并甲亢患兒的文獻,檢索時間為建庫至2017年5月31日,總結(jié)DGS合并甲亢患兒的臨床特征及其與遺傳學(xué)異常的關(guān)聯(lián)。結(jié)果患兒女,12歲,因"1年內(nèi)抽搐發(fā)作2次,發(fā)現(xiàn)甲狀腺功能異常4月"于2016年12月就診于浙江大學(xué)醫(yī)學(xué)院附屬第一醫(yī)院兒科�；純河械外}抽搐、甲亢、身材矮小、智力異常、貧血和慢性中耳炎等多系統(tǒng)異常。染色體芯片檢測結(jié)果顯示22q11.21微缺失,缺失2 512 kb,基因組中位置18919095-21431174(hg19),診斷為DGS伴甲亢,予甲巰咪唑片(bid,起始為10 mg,2 d后改為5 mg)和補鈣等對癥治療,血鈣至正常范圍后出院并繼續(xù)口服甲巰咪唑片(5 mg,qd),出院3、6個月電話隨訪無抽搐發(fā)作。在PubMed中共檢索到10篇英文文獻報告了17例DGS合并甲亢患兒,病情不一,累及系統(tǒng)較多。結(jié)論 DGS臨床表現(xiàn)多樣,累及系統(tǒng)廣泛,易誤診、漏診和遲診。對原發(fā)性甲狀旁腺功能減退患兒,建議行染色體芯片分析并評估甲狀腺功能。
[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.
【作者單位】： 浙江大學(xué)醫(yī)學(xué)院附屬第一醫(yī)院兒科;
【基金】：浙江省醫(yī)藥衛(wèi)生科技計劃項目:2016ZHA004
【分類號】：R725

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