CYP11B1基因新突变致11β-羟化酶缺陷症1例家系研究

发布时间：2018-05-02 08:12

本文选题：先天性肾上腺增生 + β-羟化酶缺陷症　；参考：《山东大学学报(医学版)》2017年09期

【摘要】：目的分析1例经典型11β-羟化酶缺乏症患者的临床表现及其家系基因型特点。方法分析2016年3月9日诊断的1例经典型11β-羟化酶缺乏症患者的临床特征、诊疗结果、随访情况及基因测序,并结合文献进行回顾性分析。结果患者,男,29岁,发作性四肢麻痹20余年,当地医院检查发现低钾血症伴高血压,查体示身高155 cm,全身皮肤颜色较黑,自幼较同龄人生长发育迅速,8岁后身高增长不明显。CT示双侧肾上腺占位,实验室检查血浆促肾上腺皮质激素301.70 pg/mL、17-羟孕酮23.83 ng/mL、血清睾酮997.04 ng/dL、硫酸去氢表雄酮921.70μg/dL、雄烯二酮10.30 ng/mL、立位肾素活性1.90μIU/(mL·h)、醛固酮/肾素活性0.72。使用地塞米松0.75 mg/d(睡前服用)联合复方利血平氨苯喋啶片可有效抑制ACTH、雄激素水平及控制血压。CYP11B1基因分析示患者存在新纯合剪接突变c.595+1GA,其母亲、姐姐为该突变携带者,生物学父亲未见异常。结论糖皮质激素联合利血平氨苯喋啶片可用于经典型11β-羟化酶患者治疗。基因型c.595+1GA突变与经典型11β-羟化酶缺陷症有关
[Abstract]:Objective to analyze the clinical manifestations and genotypic characteristics of a classical 11 尾 -hydroxylase deficiency patient. Methods A case of classic 11 尾 -hydroxylase deficiency diagnosed on March 9, 2016 was analyzed. The clinical features, clinical results, follow-up results and gene sequencing were analyzed retrospectively. Results the patient, 29 years old, had paroxysmal limb paralysis for more than 20 years. The local hospital found hypokalemia with hypertension. The patient was 155 cm tall and the skin color of the whole body was dark. After 8 years of age, the height increase was not obvious. Ct showed bilateral adrenal gland occupying. Laboratory tests showed that the plasma adrenocorticotropic hormone (301.70 PG / mL) was 23.83 ng / mL, the serum testosterone was 997.04 ng / dL, the dehydroepiandrosterone sulfate was 921.70 渭 g / dL, androstenedione was 10.30 ng / mL, the orthostatic renin activity was 1.90 渭 IU/(mL / mL, and the aldosterone / renin activity was 0.72. Using dexamethasone 0.75 mg / d (before bedtime) combined with compound reserpine amberellidine tablet could effectively inhibit ACTH, androgen level and control blood pressure. CYP11B1 gene analysis showed that there was a new homozygous splicing mutation c.5951 GA.The mother and sister were carriers of the mutation. The biological father was not abnormal. Conclusion glucocorticoid combined with reserpine amberellidine tablets can be used in the treatment of classical 11 尾-hydroxylase. Genotype c. 595 1GA mutation associated with classical 11 尾 -hydroxylase deficiency
【作者单位】：山东大学齐鲁医院内分泌科;
【基金】：国家自然科学基金(81670706,81370943) 济南市科技发展计划(201503008) 国家卫计委科教司(201502007) 山东省科技厅-山东省自主创新及成果转化专项(2014ZZCX02201)
【分类号】：R586

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