Clinical Management in Systemic Type Pseudohypoaldosteronism Due to SCNN1B Variant and Literature Review
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Date
2021Author
Karacan Küçükali, GülçinÇetinkaya, Sema
Tunç, Gaffari
Oğuz, M. Melek
Çelik, Nurullah
Akkaş, Kardelen Yağmur
Şenel, Salih
Naz, Güleray
Erdeve Savaş, Şenay
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Karacan Küçükali G, Çetinkaya S, Tunç G, Oğuz MM, Çelik N, Akkaş KY, Şenel S, Güleray Lafcı N, Savaş Erdeve Ş. Clinical Management in Systemic Type Pseudohypoaldosteronism Due to SCNN1B Variant and Literature Review. J Clin Res Pediatr Endocrinol. 2021 Nov 25;13(4):446-451. doi: 10.4274/jcrpe.galenos.2020.2020.0107.Abstract
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.
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J Clin Res Pediatr EndocrinolVolume
13Issue
4URI
https://cms.galenos.com.tr/Uploads/Article_40066/JCRPE-13-446-En.pdfhttps://hdl.handle.net/20.500.12418/12863