ISSN: 2718-0085
Volume: 2 Issue: 02 Year: 2021
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A Newborn Admitted with Hyponatremia and Hyperkalemia Clinic and Diagnosed with Primary Hypoaldosteronism [TIP]
TIP. 2021; 2(2): 94-98 | DOI: 10.5222/TP.2021.19483

A Newborn Admitted with Hyponatremia and Hyperkalemia Clinic and Diagnosed with Primary Hypoaldosteronism

Merve Sakar1, Semra Çetinkaya1, Ilter Arifoğlu Barış2, Ahmet Öktem3, Aysegül Zenciroğlu3, Rüveyde Bundak4, Şenay Savaş Erdeve1
1Department of Pediatric Endocrinology, Health Sciences University, Dr Sami Ulus Obstetrics and Gynecology, Child Health and Diseases Training and Research Hospital, Ankara, Turkey
2Department of Neonatology, Dr. Burhan Nalbantoğlu Public Hospital, Lefkoşa, Cyprus
3Department of Neonatology, Health Sciences University, Dr Sami Ulus Obstetrics and Gynecology, Child Health and Diseases Training and Research Hospital, Ankara, Turkey
4Department of Pediatric Endocrinology, University of Kyrenia, Lefkoşa, Cyprus

Primary hypoaldosteronism is a rare autosomal recessive disorder that causes defects in aldosterone synthase enzyme activity due to an inactivating mutation in the CYP11B2 gene. Patients with primary hypoaldosteronism exhibit symptoms such as vomiting, dehydration, feeding problems, and failure to thrive. This disease is characterized by hyponatremia, hyperkalemia, metabolic acidosis, high renin, and low aldosterone levels. It also causes salt loss syndrome in the newborn period. In this article, we described a newborn with primary hypoaldosteronism who showed feeding problems and weight loss. Laboratory findings revealed hyponatremia, hyperkalemia, high plasma renin, and low aldosterone levels, while genetic analysis showed homozygous c.788T>A (p.Ile263Asn) variant in the CYP11B2 gene (NM_000498.3). Our patient responded well to oral salt and fludrocortisone treatments. Early diagnosis and treatment are particularly important because primary hypoaldosteronism causes life-threatening electrolyte disorders and salt loss syndrome.

Keywords: CYP11B2, Newborn, Primary hypoaldosteronism, Salt-wasting

Merve Sakar, Semra Çetinkaya, Ilter Arifoğlu Barış, Ahmet Öktem, Aysegül Zenciroğlu, Rüveyde Bundak, Şenay Savaş Erdeve. A Newborn Admitted with Hyponatremia and Hyperkalemia Clinic and Diagnosed with Primary Hypoaldosteronism. TIP. 2021; 2(2): 94-98

Corresponding Author: Merve Sakar, Türkiye
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