Zhang Wen, Li Qi-Yan, Guo Zi-Hong, Zhang Cai-Yan, Zhou Ming-Shuang, Zhao Ya-Jing
Fuwai Yunnan Cardiovascular Hospital, Kunming City, Yunnan Province, China.
J Hypertens. 2024 Sep 1;42(9):1641-1646. doi: 10.1097/HJH.0000000000003786. Epub 2024 Jun 10.
Primary aldosteronism is the most common cause of secondary hypertension, which is caused by increased aldosterone secretion in the adrenal cortex and contains many subtypes, among which familial hyperaldosteronism is relatively rare. Familial hyperaldosteronism can be divided into four subtypes based on its clinical manifestations and mutated genes: FH-I , FH-II , FH-III , and FH-IV . This article reports on three patients with FH-IV: a mother and her two sons. They were diagnosed with hypertension in other hospitals, and hypokalemia was found during hospitalization in our department. Diltiazem and terazosin were used for elution for 1 month. Renin and aldosterone levels in standing or supine positions improved, and the aldosterone-to-renin ratio was positive. Primary aldosteronism was diagnosed based on improved saline and captopril inhibition tests. As the three patients were blood-related immediate family members, gene screening was performed, diagnosing them with FH-IV . This article reports the clinical characteristics of the three cases in combination with related literature to improve the understanding of FH-IV .
原发性醛固酮增多症是继发性高血压最常见的病因,由肾上腺皮质醛固酮分泌增加引起,包含多种亚型,其中家族性醛固酮增多症相对少见。家族性醛固酮增多症根据临床表现和突变基因可分为四个亚型:FH-I、FH-II、FH-III和FH-IV。本文报道了3例FH-IV患者:一位母亲及其两个儿子。他们在其他医院被诊断为高血压,在我院住院期间发现低钾血症。使用地尔硫䓬和特拉唑嗪洗脱1个月。立位或卧位肾素和醛固酮水平改善,醛固酮/肾素比值为阳性。根据改良盐水和卡托普利抑制试验诊断为原发性醛固酮增多症。由于这3例患者为有血缘关系的直系亲属,进行了基因筛查,诊断为FH-IV。本文结合相关文献报道这3例病例的临床特征,以提高对FH-IV的认识。