Berna SİNGİN, Zeynep DONBALOĞLU, Ebru BARSAL ÇETİNER, Kürşat ÇETİN, Nurten ÖZKAN ZARİF, Kıymet ÇELİK, Ercan MIHÇI, Özden ALTIOK CLARK, Hale TUHAN, Mesut PARLAK
Journal of Clinical Research in Pediatric Endocrinology - 2026;18(Suppl 1):54-58
Pseudohypoaldosteronism (PHA) is a rare disorder that, if not promptly recognized and treated, can lead to life-threatening hyperkalemia resulting in cardiac arrest and death. Systemic PHA is caused by variants that deactivate the epithelial sodium channel subunits. Management is challenging due to high-dose oral replacement therapy, and patients with systemic PHA require lifelong treatment. Here, we present the clinical course of a newborn diagnosed with PHA at seven days of age due to severe dehydration, inadequate feeding, vomiting, and lethargy. The infant was found to be homozygous for the variant c.1234dup (p.Glu412Glyfs*39) in exon 8 of the SCNN1B gene. The patient had multiple hospitalizations during follow-up and died at the age of 10 months due to pneumonia. Maintaining a high clinical suspicion for PHA is crucial for initiating treatment and preventing potential cardiac arrest and death in these patients. Further research is needed to determine the significance of such novel mutations in this disease.
