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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

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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.