J Clin Res Pediatr Endocrinol. 2021; 13(4): 446-451 | DOI: 10.4274/jcrpe.galenos.2020.2020.0107

Clinical Management in Systemic Type Pseudohypoaldosteronism Due to SCNN1B Variant and Literature Review

Gülin Karacan Küçükali¹, Semra Çetinkaya², Gaffari Tunç³, M. Melek Oðuz⁴, Nurullah Çelik⁵, Kardelen Yaðmur Akkaþ⁴, Saliha Þenel⁴, Naz Güleray Lafcý⁶, Þenay Savaþ Erdeve^2
1Van Yüzüncü Yýl University Faculty of Medicine, Department of Pediatrics, Division of Neonatology, Van, Turkey
²University of Health Sciences Turkey, Dr. Sami Ulus Maternity, Child Health and Diseases Training and Research Hospital, Clinic of Pediatric Endocrinology, Ankara, Turkey
³Sivas Cumhuriyet University Faculty of Medicine, Department of Child Health and Diseases, Division of Neonatalogy, Sivas, Turkey
⁴University of Health Sciences Turkey, Dr. Sami Ulus Maternity, Child Health and Diseases Training and Research Hospital, Clinic of Pediatric, Ankara, Turkey
⁵Sivas Cumhuriyet University Faculty of Medicine, Department of Child Health and Diseases, Division of Pediatric Endocrinology, Sivas, Turkey
⁶University of Health Sciences Turkey, Dr. Sami Ulus Maternity, Child Health and Diseases Training and Research Hospital, Clinic of Medical Genetics, Ankara, Turkey

Systemic pseudohypoaldosteronism (PHA) is a rare, salt-wasting syndrome that is caused by inactivating variants in genes encoding epithelial sodium channel subunits. Hyponatremia, hyperkalemia, metabolic acidosis, increased aldosterone and renin levels are expected findings in PHA. Clinical management is challenging due to high dose oral replacement therapy. Furthermore, patients with systemic PHA require life-long therapy. Here we report a patient with systemic PHA due to SCNN1B variant whose hyponatremia and hyperkalemia was detected at the 24th hour of life. Hyperkalemia did not improve with conventional treatments and dialysis was required. He also developed myocarditis and hypertension in follow-up. Challenges for diagnosis and treatment in this patient are discussed herein. In addition, published evidence concerning common features of patients with SCNN1B variant are reviewed.

Keywords: Systemic pseudohypoaldosteronism, hyponatremia, hyperkalemia, metabolic acidosis, epithelial sodium channel, SCNN1B

---

CITE