TY - JOUR
T1 - Pseudohypoaldosteronism presenting with thrombocytosis and bilateral pneumothoraces in an infant
AU - Javed, Asma
AU - Leonard, Jennifer M.
AU - Cramer, Carl
AU - Kumar, Seema
AU - Kirmani, Salman
AU - Brands, Chad K.
PY - 2013/4
Y1 - 2013/4
N2 - 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.
AB - 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.
KW - Failure to thrive
KW - Pseudohypoaldosteronism
UR - http://www.scopus.com/inward/record.url?scp=84878279596&partnerID=8YFLogxK
U2 - 10.1515/jpem-2012-0334
DO - 10.1515/jpem-2012-0334
M3 - Article
C2 - 23327809
AN - SCOPUS:84878279596
SN - 0334-018X
VL - 26
SP - 393
EP - 395
JO - Journal of Pediatric Endocrinology and Metabolism
JF - Journal of Pediatric Endocrinology and Metabolism
IS - 3-4
ER -
