1. Clinical Management in Systemic Type Pseudohypoaldosteronism Due to SCNN1B Variant and Literature Review
- Author
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Melahat Melek Oğuz, Naz Güleray Lafcı, Saliha Senel, Gülin Karacan Küçükali, Nurullah Çelik, Gaffari Tunç, Semra Cetinkaya, Kardelen Yağmur Akkaş, and Şenay Savaş Erdeve
- Subjects
Epithelial sodium channel ,medicine.medical_specialty ,Myocarditis ,Hyperkalemia ,business.industry ,Endocrinology, Diabetes and Metabolism ,medicine.medical_treatment ,nutritional and metabolic diseases ,Pseudohypoaldosteronism ,Metabolic acidosis ,Disease ,medicine.disease ,Gastroenterology ,Endocrinology ,Internal medicine ,Pediatrics, Perinatology and Child Health ,medicine ,medicine.symptom ,business ,Hyponatremia ,Dialysis - Abstract
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.
- Published
- 2021
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