Abstract
Pseudohypoaldosteronism is a rare disease characterized by resistance to aldosterone-targeted
organs, hyponatremia, hyperkalemia, metabolic acidosis, and severe salt loss in hyperaldosteronism.
Homozygous mutations in SCNN1A, SCNN1B, and SCNN1G genes were found to be responsible for the etiology. About 80 cases with molecular
basis have been reported to date. In this case, a newborn patient admitted to our
neonatal intensive care unit due to feeding problems was examined. The parents of
the patient had a consanguineous marriage, and they had lost their three sons due
to hyperkalemia. Since she had hyponatremia and hyperkalemia, congenital adrenal hyperplasia
was primarily considered. Although the initial evaluation was made in this direction,
the patient was diagnosed as pseudohypoaldosteronism type 1 with the findings obtained
during the process such as dehydration, cortisol levels, adrenocorticotropic hormone
levels, and negative CYP21A2 analysis result. This clinical diagnosis was confirmed by the novel homozygous frame-shift
variant c.1245_1246insC (p.N416Qfs*35) in SCNN1B shown by gene analysis. In this report, we seek to emphasize that aldosterone deficiency
should be one of the first diagnoses to be considered in neonatal patients with hyponatremia,
hyperkalemia, metabolic acidosis, and dehydration.
Keywords
pseudohypoaldosteronism - hyperkalemia - SCNN1B
