Case Report

A novel SCNN1A variation in a patient with autosomal-recessive pseudohypoaldosteronism type 1

10.4274/jcrpe.galenos.2021.2020.0175

  • Mohammed Ayed Huneif
  • Ziyad Hamad AlHazmy
  • Anas M. Shoomi
  • Mohammed A. AlGhofely
  • Humariya Heena
  • Aziza M. Mushiba
  • Abdulhamid AlSaheel

Received Date: 14.10.2020 Accepted Date: 03.02.2021 J Clin Res Pediatr Endocrinol 0;0(0):0-0 [e-Pub] PMID: 33829730

Pseudohypoaldosteronism type 1 (PHA1) is an autosomal-recessive disorder characterized by defective regulation of body sodium levels. The abnormality results from mutations in the gene-encoding subunits of the epithelial sodium channel (ENaC). Patients with PHA1 present in infancy as being in adrenal crisis.

A 41-day-old female who presented with recurrent adrenal crisis did not adequately respond to hydrocortisone and required mineralocorticoid therapy.

The patient’s demographic data and clinical features were recorded. Blood samples were collected and tested for endocrine and metabolic characteristics and for use in genetic studies. Bidirectional Sanger sequencing of SCNN1A was conducted. The entire coding region of 12 exons and 20 bp of flanking intron were sequenced.

Genetic analyses revealed a new mutation—c.729_730delAG (p.Val245Glyfs*65)—in SCNN1A exon four.

Adrenal crisis during the neonatal period highlights the importance of early screening for PHA1. Genetic testing could help to anticipate the prognosis, severity, onset of the disease, and the mode of inheritance, especially with its extensive phenotype.

Keywords: Pseudohypoaldosteronism, hyperkalemia, hyponatremia, adrenal crisis, congenital adrenal hyperplasia