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Pseudo hypoaldosteronism type 1 (PHA1) is a rare condition characterized by hyponatremia, hyperkalemia, metabolic acidosis, and elevated serum aldosterone. Severe electrolyte derangements occur in the setting of aldosterone resistance. Autosomal recessive PHA1 confers aldosterone resistance through defective sodium epithelial channels present in the kidneys, sweat glands, salivary glands, and colon attributing to the systemic nature of the condition. Infants with this condition develop severe hyperkalemia, hyponatremia, and metabolic acidosis in the neonatal period. We present four infants of Mixteco dialect-speaking Hispanic parents, presenting in the neonatal period with severe hyperkalemia and hyponatremia due to PHA1b.
Kawaguchi et al. (Thu,) studied this question.