Journal Basic Info
- Impact Factor: 1.809**
- H-Index: 6
- ISSN: 2474-1655
- DOI: 10.25107/2474-1655
Major Scope
- Otolaryngology
- Pulmonary Medicine
- Depression
- Family Medicine and Public Health
- Physical Medicine & Rehabilitation
- Obstetrics and Gynecology
- Internal Medicine
- Pediatrics
Abstract
Citation: Ann Clin Case Rep. 2017;2(1):1285.DOI: 10.25107/2474-1655.1285
A Newborn with Type 1 Pseudohypoaldosteronism: Case Report
Terek D, Ergin F, Uygur O, Yalaz M, Akisu M, Koroğlu OA, Darcan S, Ozkinay F and Kultursay N
Department of Neonatology, Ege University, Turkey
Department of Endocrinology, Ege University, Turkey
Department of Genetics, Ege University, Turkey
*Correspondance to: Kultursay N
PDF Full Text Case Report | Open Access
Abstract:
Pseudohypoaldesteronism (PHA) is a rare disease developing as a result of peripheral resistance to aldosterone and is characterized by salt loss. We present a 6-day-old newborn who was admitted to emergency care with poor enteral feeding and vomiting, with hyponatremia, hyperkalemia and elevated plasma aldosterone levels. Type 1 PHA was diagnosed due to resistance to the fluid replacement and steroid treatment. Genetic analysis showed homozygous SCNN1A mutation.
Keywords:
New born; Hyperpotassemia; Hyponatremia; Pseudohypoaldosteronism
Cite the Article:
Terek D, Ergin F, Uygur O, Yalaz M, Akisu M, Koro?lu OA, et al. A Newborn with Type 1 Pseudohypoaldosteron?sm: Case Report. Ann Clin Case Rep. 2017; 2: 1285.
