Premium
Variable clinical outcome of ABCA 3 deficiency in two siblings
Author(s) -
Thavagnanam Surendran,
Cutz Ernest,
Manson David,
Nogee Lawrence M.,
Dell Sharon D.
Publication year - 2013
Publication title -
pediatric pulmonology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.866
H-Index - 106
eISSN - 1099-0496
pISSN - 8755-6863
DOI - 10.1002/ppul.22698
Subject(s) - medicine , sibling , lung function , pediatrics , lung disease , pulmonary function testing , outcome (game theory) , normalization (sociology) , disease , lung , developmental psychology , psychology , mathematics , mathematical economics , sociology , anthropology
This case report describes an unusual outcome of ABCA3 deficiency with resolution of symptoms, normalization of chest imaging and lung function in a 9‐year‐old child whose sibling died of the same disease in infancy. Pediatr Pulmonol. 2013; 48:1035–1038. © 2013 Wiley Periodicals, Inc.