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Pseudohypoaldosteronism presenting with thrombocytosis and bilateral pneumothoraces in an infant.
- Source :
-
Journal of pediatric endocrinology & metabolism : JPEM [J Pediatr Endocrinol Metab] 2013; Vol. 26 (3-4), pp. 393-5. - Publication Year :
- 2013
-
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.
Details
- Language :
- English
- ISSN :
- 0334-018X
- Volume :
- 26
- Issue :
- 3-4
- Database :
- MEDLINE
- Journal :
- Journal of pediatric endocrinology & metabolism : JPEM
- Publication Type :
- Academic Journal
- Accession number :
- 23327809
- Full Text :
- https://doi.org/10.1515/jpem-2012-0334