Pseudohypoaldosteronism presenting with thrombocytosis and bilateral pneumothoraces in an infant

Authors

Asma Javed, Mayo Clinic, United States
Jennifer M. Leonard, Mayo Clinic, United States
Carl Cramer, Mayo Clinic, United States
Seema Kumar, Mayo Clinic, United States
Salman Kirmani, Mayo Clinic, United StatesFollow
Chad K. Brands, All Children’s Hospital Johns Hopkins Medicine, United States

Document Type

Article

Department

Paediatrics and Child Health

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.

Comments

This work was published before the author joined Aga Khan University.

Publication (Name of Journal)

Journal of Pediatric Endocrinology and Metabolism

Recommended Citation

Javed, A., Leonard, J. M., Cramer, C., Kumar, S., Kirmani, S., Brands, C. K. (2013). Pseudohypoaldosteronism presenting with thrombocytosis and bilateral pneumothoraces in an infant. Journal of Pediatric Endocrinology and Metabolism, 26(3-4), 393-395.
Available at: https://ecommons.aku.edu/pakistan_fhs_mc_women_childhealth_paediatr/1286