Pseudohypoaldosteronism presenting with thrombocytosis and bilateral pneumothoraces in an infant
Paediatrics and Child Health
Pseudohypoaldosteronism type 1 (PHA-1) is a rare salt-wasting syndrome caused by a peripheral resistance to aldosterone. Here, we describe an unusual presentation of the autosomal dominant PHA-1 featuring bilateral pneumothoraces at birth, thrombocytosis in infancy, and hypercalcemia in addition to the well-described findings of hyponatremia, hyperkalemia, and failure to thrive. These findings contribute to the limited case descriptions of PHA-1 and may suggest additional diagnostic considerations in a neonate presenting with hyperkalemia, hyponatremia, and failure to thrive.
Journal of Pediatric Endocrinology and Metabolism
Leonard, J. M.,
Brands, C. K.
(2013). Pseudohypoaldosteronism presenting with thrombocytosis and bilateral pneumothoraces in an infant. Journal of Pediatric Endocrinology and Metabolism, 26(3-4), 393-395.
Available at: https://ecommons.aku.edu/pakistan_fhs_mc_women_childhealth_paediatr/1286