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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+1G>A,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+1G>A突变与经典型11β-羟化酶缺陷症有关
Objective To analyze the clinical manifestations and pedigree genotypes of one case of classic 11β-hydroxylase deficiency. Methods The clinical features, diagnosis and treatment, follow-up and gene sequencing of one case of classical 11β-hydroxylase deficiency diagnosed on March 9, 2016 were analyzed. Retrospective analysis was made based on the literature. Results The patient, male, 29 years old, had episodic limb paralysis for more than 20 years. Hypokalemia and hypertension were detected in the local hospital. The height of the body was 155 cm. The whole body color of the skin was darker. Height growth is not obvious after the age. CT showed bilateral adrenal space, laboratory tests of plasma adrenocorticotropic hormone 301.70 pg / mL, 17-hydroxy progesterone 23.83 ng / mL, serum testosterone 997.04 ng / dL, DHEA 921.70μg / dL, male Dione> 10.30 ng / mL, orthostatic activity 1.90 μIU / (mL · h), aldosterone / renin activity 0.72. Use of dexamethasone 0.75 mg / d (taken before bedtime) combined with reserpine triamterene tablets can effectively inhibit ACTH, androgen levels and blood pressure control. CYP11B1 gene analysis showed a new homozygous splicing mutation in patients with c.595 +1 G> A, the mother, sister of the mutation carriers, biological father no exception. Conclusion glucocorticoid and reserpine triamterene tablets can be used for the treatment of patients with classic 11β-hydroxylase. Genotype c.595 + 1G> A mutations associated with the classic 11β-hydroxylase deficiency