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Clinical analysis of salt-wasting in infants due to genetic aetiology

Yanshu Xie1, Xu Liu1, Jing Tang1

  • 1Department of Paediatrics, The First Affiliated Hospital of Guangxi Medical University, Nanning, China, China.

Endokrynologia Polska
|March 17, 2025
PubMed

Insights

Genetic causes of salt-wasting in infants are often congenital adrenal hyperplasia (CAH). Pseudohypoaldosteronism and aldosterone synthase deficiency are also important considerations, confirmed by gene analysis.

Area of Science:

  • Pediatric Endocrinology
  • Clinical Genetics
  • Molecular Diagnostics

Background:

  • Salt-wasting (SW) in infants presents a significant clinical challenge.
  • Understanding the genetic underpinnings of SW is crucial for accurate diagnosis and management.
  • This study focuses on the clinical and genetic spectrum of SW in infants.

Purpose of the Study:

  • To provide an overview of the clinical presentations of SW in infants.
  • To identify the genetic causes responsible for SW in the pediatric population.
  • To highlight the importance of genetic analysis in diagnosing SW.

Main Methods:

  • A retrospective analysis of infant cases with SW was conducted.
  • Data were collected from the Paediatric Unit of the First Affiliated Hospital of Guangxi Medical University.
  • Infants were evaluated between January 2012 and July 2022.

Main Results:

  • Congenital adrenal hyperplasia (CAH), specifically 21-hydroxylase deficiency, was the most common cause (86.7%).
  • Non-CAH causes included congenital chloride diarrhea, Barter's syndrome, pseudohypoaldosteronism type 1, and aldosterone synthase deficiency (ASD).
  • Novel mutations in NR3C2 and CYP11B2 genes were identified, with ASD pathogenicity confirmed in vitro.

Conclusions:

  • While CAH is the primary cause of SW in infants, other genetic disorders like pseudohypoaldosteronism and ASD must be considered.
  • Aldosterone levels alone should not exclude ASD in infants.
  • Genetic testing is essential for definitive diagnosis of SW etiologies.
Abstract

Keywords:
aldosterone synthase deficiencycongenital adrenal hyperplasiainfantpseudohypoaldosteronismsalt wasting

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