A pedigree of pseudohypoaldosteronism type Ⅱ and review of literature
10.3760/cma.j.cn311282-20230606-00253
- VernacularTitle:一个假性醛固酮减少症Ⅱ型家系临床和基因分析并文献复习
- Author:
Lixin DING
1
;
Ping ZHANG
;
Hui WANG
;
Li FENG
;
Xiaohua GUAN
;
Qimei YANG
;
Li ZHU
;
Wenlong XU
;
Xinping ZHANG
;
Liyuan LI
;
Jinjuan CAO
Author Information
1. 宝鸡高新人民医院内分泌科，陕西 721000
- Keywords:
Pseudohypoaldosteronism type Ⅱ;
WNK4 gene;
Hyperkalaemia;
Hypertension
- From:
Chinese Journal of Endocrinology and Metabolism
2024;40(6):521-524
- CountryChina
- Language:Chinese
-
Abstract:
The clinical data, laboratory test, and gene mutations were collected from a family with pseudohypoaldosteronism type II(PHA2). The proband, aged 1 year and 7 months, presented with hyperkalemia(6.69 mmol/L; reference range 3.5-5.3 mmol/L), blood pressure of 110/68 mmHg(normal<106/61 mmHg, 1 mmHg=0.133 kPa), blood chloride of 111.5 mmol/L(reference 99-110 mmol/L), blood HCO 3- of 17.1 mmol/L(reference 22-29 mmol/L), estimated glomerular filtration rate of 128.5 mL·min -1·(1.73 m 2) -1[>90 mL·min -1·(1.73 m 2) -1], and blood renin concentration of 0.30 μIU/mL(reference 4.2-45.6 μIU/mL). The mother and maternal grandfather also exhibited normal renal function with hyperkalemia, hypertension, hyperchloremia, metabolic acidosis, and low renin. Genetic testing revealed a heterozygous missense mutation(c.1685A>G, p. E562G) in exon 7 of the no-lysine kinase 4(WNK4) gene. Treatment with hydrochlorothiazide was effective. Literature review comparing this E562G pedigree with other WNK4 variants suggested clinical heterogeneity of WNK4 mutations. For unexplained hyperkalemia, especially with concurrent hypertension, PHA2 should be considered early for genetic screening to prevent misdiagnosis or delayed diagnosis.
