A case report of neonatal pseudoaldosteronism caused by NR3C2 gene mutation
10.3969/j.issn.1674-8115.2025.07.016
- VernacularTitle:NR3C2基因变异致新生儿假性醛固酮减少症1例报道
- Author:
Junhe LI
1
;
Rui ZHANG
;
Qingxu LIU
;
Sumin SUI
Author Information
1. 蚌埠医科大学,蚌埠 233030;安徽省亳州市人民医院儿科,亳州 236805
- Publication Type:Journal Article
- Keywords:
neonate;
pseudohypoaldosteronism type Ⅰ(PHA Ⅰ);
NR3C2 gene;
hyperkalemia;
hyponatremia
- From:
Journal of Shanghai Jiaotong University(Medical Science)
2025;45(7):934-938
- CountryChina
- Language:Chinese
-
Abstract:
Pseudohypoaldosteronism type Ⅰ(PHA Ⅰ)is a rare inherited disease,mainly caused by the deficiency of the aldosterone receptor or by reduced or absent binding between aldosterone and its receptor.It typically manifests as neonatal hyponatremia,hyperkalaemia,metabolic acidosis,accompanied by dehydration,vomiting,weight loss,and even shock.PHA Ⅰ is classified into renal-type with mutations in the salt corticosteroid receptor and multi-organ with mutations in any of the three subunits of the epithelial sodium channel(α,β or γ).The renal-type,which is inherited in an autosomal dominant manner,is caused by mutations in the aldosterone receptor with an isolated nephrogenic salt-loss syndrome,and the clinical symptoms are milder compared with those of the multi-organ type,which may improve with age.However,severity varies among individuals depending on the degree of salt loss,and if not treated in time,it may lead to shock due to repeated dehydration or even cardiac arrest due to high potassium.Currently,domestic studies have found that the human salt corticosteroid receptor is encoded by the NR3C2 gene,which is located between the regions of 4q31.1 and 4q31.2.This case reports a child with nephrogenic PHA Ⅰ due to a new-onset variant of the NR3C2(4q31.22)gene,who had chromosomal anomalies in the fetus and demonstrated high blood pressure,high blood potassium and low sodium after birth.The diagnosis of renal neonatal PHA Ⅰ was confirmed by the presence of a microdeletion of NR3C2 gene(4q31.22 region)in the child,which was demonstrated by a genome-wide chromosomal assay and accompanied by a significant elevation of the plasma aldosterone level(>2 000 pg/mL),and by the presence of a microdeletion of NR3C2 gene(4q31.22 region)in the child.Electrolyte disorders were corrected after oral administration of concentrated sodium chloride,and the condition remained stable at the 1-month follow-up.
