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Case Reports
. 2025 Jun 24;53(6):675-678.
doi: 10.3760/cma.j.cn112148-20240730-00428.

[Three cases of pseudohypoaldosteronism type Ⅱ]

[Article in Chinese]
Y Zhang  1 , J L Zuo  2 , X F Tang  3 , Z Hu  3 , S L Chu  3 , P J Gao  4 , J Z Xu  3 , J W Ni  5 , J G Wang  4 , L M Zhu  3 , Q Ge  3
Affiliations
Case Reports

[Three cases of pseudohypoaldosteronism type Ⅱ]

[Article in Chinese]
Y Zhang et al. Zhonghua Xin Xue Guan Bing Za Zhi. .

Abstract

假性醛固酮减少症Ⅱ型是一种罕见的单基因遗传性高血压疾病，其典型临床表现为高血压伴肾功能正常情况下的高钾血症和代谢性酸中毒。目前已知该病与4个致病基因突变相关。该文报道了3例携带不同突变基因的假性醛固酮减少症Ⅱ型病例，尽管患者临床表型存在明显的异质性，但均对氢氯噻嗪治疗有效。临床应对高血压合并高钾血症患者开展假性醛固酮减少症Ⅱ型相关基因筛查，并对确诊患者进行长期随访。.

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