经典型巴特综合征1例家系的临床及基因检测分析
|
摘要
目的报道1例临床诊断为巴特综合征病人的临床资料,进行基因检测明确诊断,同时检测其父母及妹妹的相关基因,并文献复习。方法分析2017年6月29日安徽医科大学第一附属医院内分泌科收治1例并诊断为巴特综合征(经典型)病人的临床特征、实验室检查结果以及基因全外显子组测序分析结果,并对该病人家属进行基因分析验证。检索并查阅相关文献,对巴特综合征的临床及突变基因类型进行总结。结果病人编码氯通道蛋白CLC-Kb的CLCNKB基因存在c.228A>C (外显子3)的纯合突变,结合该病人临床及基因检测结果明确诊断为巴特综合征(经典型)。家系分析显示其父亲母亲均存在该致病基因的杂合突变,病人的妹妹为该基因的野生型。结论对于临床拟诊为巴特综合征的病人,应积极对病人及家庭成员进行基因筛查,以求明确诊断和指导治疗。
Objective To report the clinical data of a case with clinical diagnosis of Bartter syndrome(BS),carry out genetic diagnosis,detect the related genes of parents and the younger sister,and review the literature.Methods The clinical data and lab test results and genomic exome sequencing analysis results of a patient with clinical diagnosis of Bartter syndrome who was admitted in the Endocrinology Department of the First Affiliated Hospital of Anhui Medical University on June 29,2017 were analyzed.Meanwhile,gene detection was carried out for verification among family members.And literature was reviewed for summarizing the clinical and mutant genetic types of BS.Results The CLCNKB gene encoding the chloride channel protein CLC-Kb had homozygous mutation(CLCNKB:c.228 A>C) in the patient,and the clinical and genetic test results were clearly diagnosed as Bartter syndrome(classic).Family analysis showed that the heterozygous mutation was found in patient's parents while wild-type gene was found in patient's sister.Conclusion It is necessary of the patient with clinical diagnosis of Bartter syndrome to carry out gene test for his family members in order to make a definite diagnosis and treatment.
Objective To report the clinical data of a case with clinical diagnosis of Bartter syndrome(BS),carry out genetic diagnosis,detect the related genes of parents and the younger sister,and review the literature.Methods The clinical data and lab test results and genomic exome sequencing analysis results of a patient with clinical diagnosis of Bartter syndrome who was admitted in the Endocrinology Department of the First Affiliated Hospital of Anhui Medical University on June 29,2017 were analyzed.Meanwhile,gene detection was carried out for verification among family members.And literature was reviewed for summarizing the clinical and mutant genetic types of BS.Results The CLCNKB gene encoding the chloride channel protein CLC-Kb had homozygous mutation(CLCNKB:c.228 A>C) in the patient,and the clinical and genetic test results were clearly diagnosed as Bartter syndrome(classic).Family analysis showed that the heterozygous mutation was found in patient's parents while wild-type gene was found in patient's sister.Conclusion It is necessary of the patient with clinical diagnosis of Bartter syndrome to carry out gene test for his family members in order to make a definite diagnosis and treatment.
引文
[1] BARTTER FC,PRONOVE P,GILL JR,et al.Hyperplasia of the juxtaglomerular complex with hyperaldosteronism and hypokalemic alkalosis.A new syndrome[J].Am J Med,1962,33:811-828.
[2] 殷方美,郑方遒,张鑫,等.巴特综合征临床分析[J].中华医学杂志,2011,91(8):528-531.
[3] NAESENS M,STEELS P,VERBERCKMOES R,et al.Bartter's and Gitelman's syndromes:from gene to clinic[J].Nephron Physiol,2004,96(3):65-78.
[4] 杨梦丝,彭韶.Bartter 综合征的研究进展[J].医学与哲学,2014,35(10):64-66,77.
[5] FREMONT OT,CHAN JC.Understanding bartter syndrome and gitelman syndrome[J].World J Pediatr,2012,8(1):25-30.
[6] 刘茂静,于迎,高洁,等.经典型Bartter综合征家系CLCNKB基因突变分析[J].中华肾脏病杂志,2011,27(6):395-399.
[7] CHENG CJ,LO YF,CHEN JC,et al.Functional severity of CLCNKB mutations correlates with phenotypes in patients with classic Bartter's syndrome[J].J Physiol(Lond),2017,595(16):5573-5586.
[8] 沈晓明.临床儿科学[M].2版.北京:人民卫生出版社,2013:712-714.
[9] 刘舒蕾,李志辉,张良,等.巴特综合征25例临床特点分析[J].中国中西医结合儿科学,2013,5(6):553-554.
[10] 周美央,梁华.巴特综合征研究进展[J].国际泌尿系统杂志,2017,27(1):124-129.
[11] RACHID ML,DREUX S,PEAN DE PONFILLY G,et al.Prenatal diagnosis of Bartter syndrome:amniotic fluid aldosterone[J].Prenat Diagn,2016,36(1):88-91.
[2] 殷方美,郑方遒,张鑫,等.巴特综合征临床分析[J].中华医学杂志,2011,91(8):528-531.
[3] NAESENS M,STEELS P,VERBERCKMOES R,et al.Bartter's and Gitelman's syndromes:from gene to clinic[J].Nephron Physiol,2004,96(3):65-78.
[4] 杨梦丝,彭韶.Bartter 综合征的研究进展[J].医学与哲学,2014,35(10):64-66,77.
[5] FREMONT OT,CHAN JC.Understanding bartter syndrome and gitelman syndrome[J].World J Pediatr,2012,8(1):25-30.
[6] 刘茂静,于迎,高洁,等.经典型Bartter综合征家系CLCNKB基因突变分析[J].中华肾脏病杂志,2011,27(6):395-399.
[7] CHENG CJ,LO YF,CHEN JC,et al.Functional severity of CLCNKB mutations correlates with phenotypes in patients with classic Bartter's syndrome[J].J Physiol(Lond),2017,595(16):5573-5586.
[8] 沈晓明.临床儿科学[M].2版.北京:人民卫生出版社,2013:712-714.
[9] 刘舒蕾,李志辉,张良,等.巴特综合征25例临床特点分析[J].中国中西医结合儿科学,2013,5(6):553-554.
[10] 周美央,梁华.巴特综合征研究进展[J].国际泌尿系统杂志,2017,27(1):124-129.
[11] RACHID ML,DREUX S,PEAN DE PONFILLY G,et al.Prenatal diagnosis of Bartter syndrome:amniotic fluid aldosterone[J].Prenat Diagn,2016,36(1):88-91.