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Licensed Unlicensed Requires Authentication Published by De Gruyter January 17, 2013

Pseudohypoaldosteronism presenting with thrombocytosis and bilateral pneumothoraces in an infant

  • Asma Javed EMAIL logo , Jennifer M. Leonard , Carl Cramer , Seema Kumar , Salman Kirmani and Chad K. Brands
From the journal Journal of Pediatric Endocrinology and Metabolism
https://doi.org/10.1515/jpem-2012-0334

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.

Keywords: failure to thrive; pseudohypoaldosteronism
Corresponding author: Asma Javed, Mayo Clinic, Pediatric Endocrinology, 200 First Street SW, Rochester, Minnesota 55905 USA
Received: 2012-10-19
Accepted: 2012-12-12
Published Online: 2013-01-17
Published in Print: 2013-04-01

©2013 by Walter de Gruyter Berlin Boston

From the journal
Journal of Pediatric Endocrinology and Metabolism
Journal of Pediatric Endocrinology and Metabolism
Volume 26 Issue 3-4
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