CAJ | 학술논문

目的总结22q11.2微缺失综合征(22q11.2DS)患儿的临床特征,以提高对该病的认识.方法分析2008年8月至2014年4月在复旦大学附属儿科医院经荧光原位杂交技术(FISH)或多重连接探针扩增技术(MLPA)确诊为22q1 1.2DS的20例患儿的资料,总结其临床特征.结果 20例患儿中男13例,女7例;确诊中位数年龄为3.9个月.先天性心脏病共17例(85％),9例患儿行手术治疗;最常见的复杂先天性心脏病类型为法洛四联症和肺动脉闭锁,均为20％(4/20例).免疫功能异常10例(50％),其中9例患儿为T淋巴细胞总数明显减少,1例仅为CD8细胞数量减少,体液免疫功能均正常.6例细胞免疫异常患儿经胸腺肽治疗,其中4例患儿经随访免疫功能提示明显好转.低钙血症为6例(30％),3例出现低钙抽搐、甲状旁腺素减低;面容异常3例(15％),2例仅表现为小下颌;腭咽喉部畸形4例(20％),3例喉部异常,1例腭裂;精神运动发育迟缓患儿9例(45％).结论对于先天性心脏病并低钙血症和/或免疫功能异常的患儿应考虑存在22q1 1.2DS的可能,最终需结合分子诊断进一步确诊.
목적 총결22q11.2미결실종합정(22q11.2DS)환인적림상특정,이제고대해병적인식.방법 분석2008년8월지2014년4월재복단대학부속인과의원경형광원위잡교기술(FISH)혹다중련접탐침확증기술(MLPA)학진위22q1 1.2DS적20례환인적자료,총결기림상특정.결과 20례환인중남13례,녀7례;학진중위수년령위3.9개월.선천성심장병공17례(85％),9례환인행수술치료;최상견적복잡선천성심장병류형위법락사련증화폐동맥폐쇄,균위20％(4/20례).면역공능이상10례(50％),기중9례환인위T림파세포총수명현감소,1례부위CD8세포수량감소,체액면역공능균정상.6례세포면역이상환인경흉선태치료,기중4례환인경수방면역공능제시명현호전.저개혈증위6례(30％),3례출현저개추휵、갑상방선소감저;면용이상3례(15％),2례부표현위소하합;악인후부기형4례(20％),3례후부이상,1례악렬;정신운동발육지완환인9례(45％).결론 대우선천성심장병병저개혈증화/혹면역공능이상적환인응고필존재22q1 1.2DS적가능,최종수결합분자진단진일보학진.
Objective To investigate the clinical manifestations in patients with 22q11.2 deletion syndrome (22q11.2DS) to improve the understanding of the disease.Methods Twenty patients with 22q11.2 DS were enrolled from Children's Hospital of Fudan University between August 2008 and April 2014.Cytogenetic and molecular genetic methods included fluorescence in situ hybridization (10 cases),and multiplex ligation-dependent probe amplification (10 cases).Age at the time of the diagnosis,sex and clinical manifestations were analyzed.Results The subject group consisted of 20 patients.Among them,13 cases (65％) were male and 7 cases (35％) were female.The median diagnostic age was 3.9 months.The presence of congenital heart diseases was identified in 17 patients (85％) and surgical correction was performed in 9 cases of them.The most frequent of complex congenital heart diseases were tetralogy of Fallot (20％) and pulmonary atresia (20％).Ten patients had varying degrees of T-cell immune function defects.Decrease in total lymphocytes and only CD8 counts were present in 45％ and 5％,respectively.Hypogammaglobulinemia was not detected in any patient.Six eases with T-cell immune function defects were treated with thymosin,4 of which were followed up for months,and the prognosis was good.Hypocalcemia was detected in 6 patients (30％),3 of whom presented with hypocalcemic seizures and hypoparathyroidism.Craniofacial dysmorphisms were detected in 3 patients(15％),2 of them only presented with micrognathia.Otorhinolaryngologic abnormalities were found in 4 cases (20％),3 of whom had laryngeal abnormalities,one of whom had cleft palate.Psychomotor developmental delay was found in 9 cases.Conclusions Congenital heart defects,hypocalcemia and/or impaired immune function are diagnostic features for 22q1 1.2 deletion syndrome,and they should be considered for cytogenetic analysis.