氯离子电压门控通道2(CLCN2)基因突变导致青少年原发性醛固酮增多症1例

A case of primary aldosteronism in adolescence caused by a mutation in the chloride voltage-gated channel 2(CLCN2)gene

  • 摘要: 患者,男,16岁,因“体检发现血压高16 d”入院,患者入院前16 d在学校体检时发现血压高,当时测血压156/107 mmHg,入院查体无阳性体征,查血钾2.98 mmol/L,查醛固酮卧立位试验及卡托普利试验阳性,皮质醇节律、血儿茶酚胺、四肢同步血压、双肾上腺CT未见异常,而后基因检测发现氯离子电压门控通道2(CLCN2)基因突变。给予氨氯地平、螺内酯药物治疗,血压及血钾控制。

     

    Abstract: A 16-year-old male was admitted due to elevated blood pressure detected during physical examination for 16 days. Sixteen days prior to admission, hypertension was identified during a school physical examination, with a recorded blood pressure of 156/107 mmHg. Physical examination upon admission revealed no positive signs. Laboratory findings showed a serum potassium level of 2.98 mmol/L. The aldosterone suppression tests (upright and supine positions) and captopril challenge test were positive. Cortisol rhythm, plasma catecholamines, four-limb synchronous blood pressure measurements, and bilateral adrenal CT were unremarkable. Subsequent genetic testing revealed a mutation in the chloride voltage-gated channel 2(CLCN2)gene. The patient was treated with amlodipine and spironolactone, achieving controlled blood pressure and serum potassium levels.

     

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