Genetic Insights and Lifelong Management of Aldosterone Synthase Deficiency: A Case of Hyperreninemic Hypoaldosteronism
Aldosterone synthase deficiency is a rare cause of neonatal salt-wasting and failure to thrive. Routine newborn electrolyte screening after 5 days of life is vital for early detection and prevention of life-threatening crises. Genetic confirmation enables targeted fludrocortisone therapy, ensuring favorable growth and developmental outcomes.
Authors
- Mian Muhammad Hassan Ahmed
- Abdur Rehman
- Rahmat Gul Omarzai (ORCID: https://orcid.org/0009-0009-9830-5649)
- Samra Batool
- Rehmana Waris
Institutions
- Benazir Bhutto Hospital (PK)
- Nangarhar University (AF)
- Pakistan Institute of Medical Sciences (PK)
Publication Details
- Journal
- Clinical Case Reports
- Published
- 2025-12-30
- DOI
- https://doi.org/10.1002/ccr3.71757
- Primary Topic
- Hormonal Regulation and Hypertension
- Type
- article
- Field-Weighted Citation Impact
- 0.00