Clinical Management in Systemic Type Pseudohypoaldosteronism Due to <i>SCNN1B</i> Variant and Literature Review.

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Karacan Küçükali G., Çetinkaya S., Tunç G., Oğuz M. M., Çelik N., Akkaş K. Y., ...More

Journal of clinical research in pediatric endocrinology, vol.13, pp.446-451, 2021 (SCI-Expanded) identifier identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 13
  • Publication Date: 2021
  • Doi Number: 10.4274/jcrpe.galenos.2020.2020.0107
  • Journal Name: Journal of clinical research in pediatric endocrinology
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus, Academic Search Premier, CINAHL, EMBASE, MEDLINE, Directory of Open Access Journals, TR DİZİN (ULAKBİM)
  • Page Numbers: pp.446-451
  • Keywords: Systemic pseudohypoaldosteronism, hyponatremia, hyperkalemia, metabolic acidosis, epithelial sodium channel, SCNN1B, EPITHELIAL SODIUM-CHANNEL, NA+ CHANNEL, MUTATIONS, BETA
  • Hacettepe University Affiliated: Yes


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.