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- Title
Pseudohypoaldosteronism presenting with thrombocytosis and bilateral pneumothoraces in an infant.
- Authors
Javed, Asma; Leonard, Jennifer M.; Cramer, Carl; Kumar, Seema; Kirmani, Salman; Brands, Chad K.
- Abstract
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.
- Publication
Journal of Pediatric Endocrinology & Metabolism, 2013, Vol 26, Issue 3/4, p393
- ISSN
0334-018X
- Publication type
Article
- DOI
10.1515/jpem-2012-0334