Back to Search Start Over

Pseudohypoaldosteronism presenting with thrombocytosis and bilateral pneumothoraces in an infant.

Authors :
Javed A
Leonard JM
Cramer C
Kumar S
Kirmani S
Brands CK
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