Clinical manifestation and molecular analysis of two infants with pseudohypoaldosteronism type 1

• Published in: Journal of genetic medicine Vol. 22; no. 1; pp. 29 - 35
• Main Authors: Kim, You Min, Kim, Young Hyun, Kim, Jin Kyung
• Format: Journal Article
• Language: English
• Published: 대한의학유전학회 30.06.2025
• Subjects: 의학일반
• ISSN: 1226-1769; 2383-8442
• DOI: 10.5734/JGM.2025.22.1.29

Pseudohypoaldosteronism type 1 (PHA1) is characterized by aldosterone resistance in the kidneys and other target tissues. This results in excessive renal salt loss, poor potassium excretion, severe volume depletion, hyponatremia, hyperkalemia, and metabolic acidosis, with markedly elevated plasma renin and aldosterone levels. PHA1 is a potentially life-threatening condition in neonates and infants, necessitating prompt diagnosis and management. However, due to its rarity and nonspecific symptoms, the diagnosis of PHA1 may be delayed. Genetic tests are valuable for differential diagnosis and to establish appropriate management strategies. We present the clinical manifestations and molecular analyses of two infants with autosomal dominant PHA1, highlighting the importance of early diagnosis and genetic testing. KCI Citation Count: 0