Abstract
Pseudohypoaldosteronism type 1 (PHA-1) is a rare salt-wasting syndrome caused by a peripheral resis tance 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.
Original language | English (US) |
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Pages (from-to) | 393-395 |
Number of pages | 3 |
Journal | Journal of Pediatric Endocrinology and Metabolism |
Volume | 26 |
Issue number | 3-4 |
DOIs | |
State | Published - Apr 1 2013 |
Keywords
- Failure to thrive
- Pseudohypoaldosteronism
ASJC Scopus subject areas
- Pediatrics, Perinatology, and Child Health
- Endocrinology, Diabetes and Metabolism
- Endocrinology