A Novel SCNN1A Variation in a Patient with Autosomal-recessive Pseudohypoaldosteronism Type 1
Mohammed Ayed Huneif1, Ziyad Hamad Alhazmy2, Anas M. Shoomi3, Mohammed A. Alghofely3, Humariya Heena4, Aziza M. Mushiba5, Abdulhamid Alsaheel31Najran University Hospital, at Pediatric Department, Collage of Medicine, Najran University, Najran, Saudi Arabia2Al Yamammah Hospital, Clinic of Pediatric Endocrinology, Riyadh, Saudi Arabia
3King Fahad Medical City, Obesity, Endocrine, and Metabolism Center, Clinic of Pediatric Endocrinology, Riyadh, Saudi Arabia
4King Fahad Medical City, Research Center, Riyadh, Saudi Arabia
5Clinical Geneticist, Pediatric Subspecialties Department, Children’s Specialized Hospital, King Fahad Medical City, Riyadh, Saudi Arabia
Pseudohypoaldosteronism type 1 (PHA1) is an autosomal-recessive disorder characterized by defective regulation of body sodium (Na) levels. The abnormality results from mutations in the genes encoding subunits of the epithelial Na channel. 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 given its extensive phenotype.
Keywords: Pseudohypoaldosteronism, hyperkalemia, hyponatremia, adrenal crisis, congenital adrenal hyperplasiaManuscript Language: English
