Document Detail


Pseudohypoaldosteronism presenting with thrombocytosis and bilateral pneumothoraces in an infant.
MedLine Citation:
PMID:  23327809     Owner:  NLM     Status:  Publisher    
Abstract/OtherAbstract:
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:
Asma Javed; Jennifer M Leonard; Carl Cramer; Seema Kumar; Salman Kirmani; Chad K Brands
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Publication Detail:
Type:  JOURNAL ARTICLE     Date:  2013-1-17
Journal Detail:
Title:  Journal of pediatric endocrinology & metabolism : JPEM     Volume:  -     ISSN:  0334-018X     ISO Abbreviation:  J. Pediatr. Endocrinol. Metab.     Publication Date:  2013 Jan 
Date Detail:
Created Date:  2013-1-18     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  9508900     Medline TA:  J Pediatr Endocrinol Metab     Country:  -    
Other Details:
Languages:  ENG     Pagination:  1-3     Citation Subset:  -    
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