Pseudohypoaldosteronism presenting with thrombocytosis and bilateral pneumothoraces in an infant

Asma Javed, Jennifer M. Leonard, Carl Cramer, Seema Kumar, Salman Kirmani, Chad K. Brands

Research output: Contribution to journalArticle

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 languageEnglish (US)
Pages (from-to)393-395
Number of pages3
JournalJournal of Pediatric Endocrinology and Metabolism
Volume26
Issue number3-4
DOIs
StatePublished - Apr 1 2013

Keywords

  • Failure to thrive
  • Pseudohypoaldosteronism

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Endocrinology, Diabetes and Metabolism
  • Endocrinology

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