title: Pseudohypoaldosteronism presenting with thrombocytosis and bilateral pneumothoraces in an infant.
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.
authors: Mayo Clinic, Pediatric Endocrinology, Rochester, MN 55905, USA. javed.asma@mayo.edu
authors: Asma
authors: A
authors: Javed
authors: Jennifer M
authors: JM
authors: Leonard
authors: Carl
authors: C
authors: Cramer
authors: Seema
authors: S
authors: Kumar
authors: Salman
authors: S
authors: Kirmani
authors: Chad K
authors: CK
authors: Brands
mesh_terms: D005183:Failure to Thrive / Q000175:diagnosis / Q000209:etiology; D006801:Humans; D007223:Infant; D008297:Male; D011030:Pneumothorax / Q000000981:diagnostic imaging* / Q000209:etiology*; D011546:Pseudohypoaldosteronism / Q000150:complications* / Q000175:diagnosis*; D011859:Radiography; D013922:Thrombocytosis / Q000175:diagnosis* / Q000209:etiology*