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

• 발행기관: 대한의학유전학회
• 저자명: You Min Kim Young Hyun Kim Jin Kyung Kim
• 간행물 정보: 『대한의학유전학회지』제22권 제1호, 29~35쪽, 전체 7쪽
• 주제분류: 의약학 > 기타의약학
• 파일형태: PDF
• 발행일자: 2025.06.30

국문 초록

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.

목차

Introduction

Cases

Discussion

Funding

Authors’ Contributions

References

키워드

Pseudohypoaldosteronism Hyponatremia Hyperkalemia Renin Aldosterone

참고문헌

• Horm Res
• Mol Cell Endocrinol
• Nat Genet
• Nat Genet
• J Am Soc Nephrol
• Am J Physiol Endocrinol Metab
• Arch Dis Child
• J Endocrinol
• J Pediatr Endocrinol Metab
• Lab Med
• Korean J Pediatr
• Ann Pediatr Endocrinol Metab
• Ann Clin Lab Sci
• Child Kidney Dis
• Children (Basel)
• J Steroid Biochem Mol Biol
• Clin Genet