Case Report

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


  • Gülin Karacan Küçükali
  • Semra Çetinkaya
  • Gaffari Tunç
  • M. Melek Oğuz
  • Nurullah Çelik
  • Kardelen Yağmur Akkaş
  • Saliha Şenel
  • Naz Güleray Lafcı
  • Şenay Savaş Erdeve

Received Date: 23.05.2020 Accepted Date: 11.08.2020 J Clin Res Pediatr Endocrinol 0;0(0):0-0 [e-Pub] PMID: 32840096

Systemic pseudohypoaldosteronism is a rare salt wasting syndrome that is caused by inactivating variants in genes encoding epithelial sodium channel subunites. Hyponatremia, hyperkalemia, metabolic acidosis, increased aldosteron and renin levels are expected findings of this disease. It is difficult to manage this disease due to high dose oral replacement therapy. Furthermore patients with systemic pseudohypoaldosteronism 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. Also he developed myocarditis and hypertension in follow-up. Difficulties in diagnosis and treatment of this patient were discussed in this report. Also we review the literature on common features of patients with SCNN1B variant.

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