E-ISSN: 2791-8823
Volume : 13 Issue : 4 Year : 2021
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Turkish Pediatric Endocrinology and Diabetes Society
Journal of Clinical Research in Pediatric Endocrinology
Clinical Management in Systemic Type Pseudohypoaldosteronism Due to SCNN1B Variant and Literature Review [J Clin Res Pediatr Endocrinol]
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 Oğuz4, Nurullah Çelik5, Kardelen Yağmur Akkaş4, Saliha Şenel4, Naz Güleray Lafcı6, Şenay Savaş Erdeve2
1Van Yüzüncü Yıl 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

Gülin Karacan Küçükali, Semra Çetinkaya, Gaffari Tunç, M. Melek Oğuz, Nurullah Çelik, Kardelen Yağmur Akkaş, Saliha Şenel, Naz Güleray Lafcı, Şenay Savaş Erdeve. Clinical Management in Systemic Type Pseudohypoaldosteronism Due to SCNN1B Variant and Literature Review. J Clin Res Pediatr Endocrinol. 2021; 13(4): 446-451
Manuscript Language: English
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