1例伴性别发育异常的继发性高血压临床特点和基因突变分析
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摘要
目的对1例17α-羟化酶/17,20碳链裂解酶缺陷症(17OHD)患者的临床特点和分子遗传学特征进行回顾性分析。方法先证者为2016年9月在河南省人民医院高血压科住院的患者,女,12岁,以"头晕1周,加重1d"为主诉就诊,查体:血压165/120mm Hg,第二性征未发育,生化检测示血钾低于正常值。进一步采血行内分泌激素测定,肾上腺及肾动脉CT增强扫描,上述检查高度疑似17OHD,最后行CYP17A1基因检测确定诊断。先证者父母及兄长随后进行CYP17A1基因检测。结果先证者皮质醇水平低于正常,而促肾上腺皮质激素反馈性增高;睾酮低于正常值,而促性腺激素增高。肾素活性降低,醛固酮水平正常。CT显示左侧肾上腺增生。患者CYP17A1基因检测显示,p.Y329X纯合无义变异。3个家系成员均为该变异的杂合突变携带者。结论高血压伴性发育不良的儿童,应考虑患17OHD的可能,应及时进行基因检测明确诊断。
引文
[1]Biglieri EG,Herron MA,Brust N,et al.17hydroxylation deficiency in man[J].J Clin Invest,1966,45(12):1946-1954.
[2]Kagimoto M,Winter JS,Kagimoto K,et al.Structural characterization of normal and mutant human steroid 17alpha-hydroxylase genes:molecular basis of one example of combined 17alphahydroxylase/17,20lyase deficiency[J].Mol Endocrinol,1988,2(6):564-570.
[3]沈烨,余永国,杨培蓉,等.1例17α-羟化酶缺陷症患者临床和CYP17A1基因突变分析[J].上海交通大学学报:医学版,2010,30(10):1297-1302.
[4]杨科,张冰,崔淑娴,等.一例17α-羟化酶/17,20碳链裂解酶缺陷症患儿的CYPl7A1基因突变分析[J].中华遗传学杂志,2013,30(4):439-442.
[5]Zhu Z,Ni S,Gu W.Clinical characteristics and mutation analysis of two Chinese children with 17a-hydroxylase/17,20-lyase deficiency[J].Int J Clin Exp Med,2015,8(10):19 132-19 137.
[6]Yao F,Huang S,Kang X,et al.CYP17A1mutations identified in17Chinese patients with 17alpha-hydroxylase/17,20-lyase deficiency[J].Gynecol Endocrinol,2013,29(1):10-15.
[7]Lee ES,Kim M,Moon S,et al.A new compound heterozygous mutation in the CYP17A1gene in a female with 17α-hydroxylase/17,20-lyase deficiency[J].Gynecol Endocrinol,2013,29(7):720-723.
[8]Auchus RJ.Steroid 17-hydroxylase and 17,20-lyase deficiencies,genetic and pharmacologic[J].J Steroid Biochem Mol Biol,2017,165(Pt A):71-78.
[9]杨军,李小英,孙首悦,等.10例17α-羟化酶/17,20碳链裂解酶缺陷症临床和遗传学研究[J].上海交通大学学报:医学版,2006,26(1):17-21.
[10]曹彩霞,王鸥,聂敏,等.1例17α-羟化酶/17,20碳链裂解酶缺陷症的临床和分子遗传分析[J].基础医学与临床,2009,29(3):225-228.
[11]虎子颖,赵志刚,汪艳芳,等.2例17α-羟化酶/17,20碳链裂解酶缺陷症患者临床及遗传学分析[J].上海交通大学学报:医学版,2015,35(3):375-379.
[12]Wei JQ,Wei JL,Li WC,et al.Genotyping of five chinese patients with 17alpha-hydroxylase deficiency diagnosed through high-performance liquid chromatography serum adrenal profile:identification of two novel CYP17mutations[J].J Clin Endocrinol Metab,2006,91(9):3647-3653.
[2]Kagimoto M,Winter JS,Kagimoto K,et al.Structural characterization of normal and mutant human steroid 17alpha-hydroxylase genes:molecular basis of one example of combined 17alphahydroxylase/17,20lyase deficiency[J].Mol Endocrinol,1988,2(6):564-570.
[3]沈烨,余永国,杨培蓉,等.1例17α-羟化酶缺陷症患者临床和CYP17A1基因突变分析[J].上海交通大学学报:医学版,2010,30(10):1297-1302.
[4]杨科,张冰,崔淑娴,等.一例17α-羟化酶/17,20碳链裂解酶缺陷症患儿的CYPl7A1基因突变分析[J].中华遗传学杂志,2013,30(4):439-442.
[5]Zhu Z,Ni S,Gu W.Clinical characteristics and mutation analysis of two Chinese children with 17a-hydroxylase/17,20-lyase deficiency[J].Int J Clin Exp Med,2015,8(10):19 132-19 137.
[6]Yao F,Huang S,Kang X,et al.CYP17A1mutations identified in17Chinese patients with 17alpha-hydroxylase/17,20-lyase deficiency[J].Gynecol Endocrinol,2013,29(1):10-15.
[7]Lee ES,Kim M,Moon S,et al.A new compound heterozygous mutation in the CYP17A1gene in a female with 17α-hydroxylase/17,20-lyase deficiency[J].Gynecol Endocrinol,2013,29(7):720-723.
[8]Auchus RJ.Steroid 17-hydroxylase and 17,20-lyase deficiencies,genetic and pharmacologic[J].J Steroid Biochem Mol Biol,2017,165(Pt A):71-78.
[9]杨军,李小英,孙首悦,等.10例17α-羟化酶/17,20碳链裂解酶缺陷症临床和遗传学研究[J].上海交通大学学报:医学版,2006,26(1):17-21.
[10]曹彩霞,王鸥,聂敏,等.1例17α-羟化酶/17,20碳链裂解酶缺陷症的临床和分子遗传分析[J].基础医学与临床,2009,29(3):225-228.
[11]虎子颖,赵志刚,汪艳芳,等.2例17α-羟化酶/17,20碳链裂解酶缺陷症患者临床及遗传学分析[J].上海交通大学学报:医学版,2015,35(3):375-379.
[12]Wei JQ,Wei JL,Li WC,et al.Genotyping of five chinese patients with 17alpha-hydroxylase deficiency diagnosed through high-performance liquid chromatography serum adrenal profile:identification of two novel CYP17mutations[J].J Clin Endocrinol Metab,2006,91(9):3647-3653.
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