Hasini Narasingolu M, Gupta Atul K, Priyadarshi Akash, Alam Ahmad, Quaiser Saif
Department of Medicine, Jawaharlal Nehru Medical College and Hospital, Aligarh Muslim University, Aligarh, IND.
Rajeev Gandhi Centre for Diabetes and Endocrinology, Jawaharlal Nehru Medical College and Hospital, Aligarh Muslim University, Aligarh, IND.
Cureus. 2024 Dec 13;16(12):e75644. doi: 10.7759/cureus.75644. eCollection 2024 Dec.
Primary aldosteronism (PA) is a common cause of secondary hypertension, with familial hyperaldosteronism (FH) contributing to a lesser number of cases. FH type IV, a rare subtype, has hardly been reported as a subtype of PA cases. We present a case of a 27-year-old female who presented to the emergency department with circumoral tingling and numbness. A diagnosis of hypocalcemia due to vitamin D deficiency was made. During hospital stay, she developed acute gastroenteritis and was treated with doxycycline, after which she experienced persistent hypokalemia. Further investigation revealed urinary potassium loss and metabolic alkalosis, although her blood pressure remained normal throughout her stay. Clinical exome sequencing identified a mutated variant in the calcium voltage-gated channel subunit alpha1 H (CACNA1H) gene associated with FH type IV. Elevated plasma aldosterone and suppressed renin confirmed PA. The administration of doxycycline for treating acute gastroenteritis likely precipitated hypokalemia by enhancing the expression of the mutated CACNA1Hgene variant, thereby increasing aldosterone production.
原发性醛固酮增多症（PA）是继发性高血压的常见病因，而家族性醛固酮增多症（FH）导致的病例数较少。IV型FH是一种罕见的亚型，几乎未被报道为PA病例的一种亚型。我们报告一例27岁女性，因口周刺痛和麻木就诊于急诊科。诊断为维生素D缺乏所致低钙血症。住院期间，她患上急性肠胃炎，并接受了强力霉素治疗，之后出现持续性低钾血症。进一步检查发现尿钾丢失和代谢性碱中毒，尽管她住院期间血压一直正常。临床外显子测序在与IV型FH相关的钙电压门控通道亚基α1 H（CACNA1H）基因中鉴定出一个突变变体。血浆醛固酮升高和肾素受抑制证实为PA。用于治疗急性肠胃炎的强力霉素可能通过增强突变的CACNA1H基因变体的表达而促使低钾血症发生，从而增加醛固酮的产生。
