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 (UK) |
|---|---|
| Pages (from-to) | 393-395 |
| Number of pages | 3 |
| Journal | Journal of Pediatric Endocrinology and Metabolism |
| Volume | 26 |
| Issue number | 3-4 |
| DOIs | |
| Publication status | Published - Apr 2013 |
| Externally published | Yes |
Keywords
- Failure to thrive
- Pseudohypoaldosteronism