Primary aldosteronism in young child: a case report and literature review
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摘要: 原发性醛固酮增多症是一种由于醛固酮分泌过量引起潴钠排钾、血容量增多、肾素-血管紧张素系统活性受抑制，主要表现为高血压、伴或不伴低血钾，病例集中在30~50岁，儿童患者罕见。本文介绍1例4岁11个月患儿，因醛固酮水平明显升高入院，高血压、低钾症状不明显，外周血全外显子检测阴性，行左肾上腺部分切除，术后病理提示肾上腺皮质增生，且肾上腺组织全外显子检测阴性，最终考虑为原发性肾上腺皮质增生引起的醛固酮增多症。Abstract: Primary aldosteronism (PA) is a disorder of aldosterone hypersecretion leading to sodium retention, potassium loss, increased blood volume and suppression of renin, characterized by hypertension with or without hypokalemia. PA is usually diagnosed between the ages of 30 and 50, and cases in children are rare. This article presents a child aged four years and eleven months who was admitted to hospital with markedly elevated aldosterone levels. The symptoms of hypertension and hypokalemia were not obvious, and whole exome sequencing of peripheral blood showed a normal result. Later, a partial adrenalectomy was performed. The postoperative pathology of the adrenal gland showed cortical hyperplasia, and whole exome sequencing of the adrenal gland showed no obvious mutations. Finally, this young patient was considered to have primary hyperaldosteronism caused by adrenal cortical hyperplasia.
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Key words:
- Primary aldosteronism /
- Children /
- Diagnosis /
- Germline mutations /
- Somatic mutations
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