1例Gitelman综合征合并马方综合征患儿的临床资料及基因检测分析  

Clinical data and genetic testing analysis of one pediatric case with Gitelman syndrome complicated with Marfan syndrome

作　　者：孙文慧[1] 刘玲[2] 崔振琼 霍美玲 SUN Wenhui;LIU Ling;CUI Zhenqiong;HUO Meiling(Department of Neuroendocrinology,Jinan Children's Hospital(Children's Hospital Affiliated to Shandong University),Jinan 250022,China;不详)

机构地区：[1]济南市儿童医院(山东大学附属儿童医院)神经内分泌科,山东济南250022 [2]济南市急救中心急救科,山东济南250022

出　　处：《山东医药》2025年第3期126-129,共4页Shandong Medical Journal

摘　　要：目的分析Gitelman综合征(GS)合并马方综合征(MFS)的临床资料及基因检测信息,总结其临床特点和遗传特征。方法对1例GS合并MFS患儿的临床资料及基因检测信息作回顾性分析。结果患儿男,6岁11月,因“间断发热3 d,双下肢无力1 d”入院。患儿身高正常,有一级亲属猝死家族史,低血钾不易纠正,近视,下颌后缩,睑裂下斜,手指、足趾纤长,胸廓外形异常,心脏彩超示主动脉窦及升主动脉扩张。全外显子基因检测结果显示,患儿存在SLC12A3基因突变(c.533C>T、c.602-16G>A)及FBN1基因突变(c.1960+1G>A)。结合患儿临床表现,明确诊断为GS合并MFS。给予补钾和β受体阻滞剂治疗后,患儿血钾近似正常。随访至8岁时,患儿主动脉持续扩张增加。结论GS、MFS均为罕见遗传病,尚未见两者并存报道。本例GS合并MFS患儿主要临床表现为低钾、手足纤长、近视、主动脉扩张等,身高正常,SLC12A3基因及FBN1基因突变为其致病原因。Objective To analyze the clinical data and genetic testing information of a case of Gitelman syndrome(GS)combined with Marfan syndrome(MFS),and to summarize the clinical characteristics and genetic features.Methods A retrospective analysis was conducted on the clinical data and genetic testing information of a child with GS combined with MFS.Results The child patient was a boy,aged 6 years and 11 months,who was admitted to the hospital due to"intermittent fever for 3 days and weakness in both lower limbs for 1 day".The child had normal height,a family history of sudden death in first-degree relatives,hypokalemia that was difficult to correct,myopia,retrognathia,downward slanting palpebral fissures,slender fingers and toes,and abnormal chest shape;echocardiography showed dilation of the aortic sinus and ascending aorta.Whole-exome sequencing revealed mutations in the SLC12A3 gene(c.533C>T,c.602-16G>A)and the FBN1 gene(c.1960+1G>A).Based on the clinical manifestations,a definitive diagnosis of GS combined with MFS was made.After treatment with potassium supplementation and β-blockers,the child's blood potassium level approached normal.By the age of 8,the aortic dilation had progressively increased.During follow-up until the age of 8,progressive dilation of the aorta was observed.Conclusions Both GS and MFS are rare genetic disorders,and there have been no reported cases of their coexistence.The main clinical manifestations of this child with GS combined with MFS include hypokalemia,slender hands and feet,myopia,aortic dilation,etc.;and he has normal height.The pathogenic causes are mutations in the SLC12A3 and FBN1 genes.

关 键 词：GITELMAN综合征 马方综合征 SLC12A3基因 FBN1基因 儿童 

分 类 号：R725.8[医药卫生—儿科]