title: ABCA3 lung disease in an ex 27 week preterm infant responsive to systemic glucocorticosteroids.
abstract: We present a case of an infant born at almost 28 weeks gestation, found to be homozygous for a missense mutation of ABCA3, with diffuse lung disease that has continued throughout infancy. The patient's clinical course and chest imaging was highly suggestive of diffuse lung disease of infancy, and not of chronic lung disease of prematurity. The lung disease proved to be highly responsive to systemic corticosteroids. This is a case of ABCA3 lung disease that demonstrated improvement after systemic glucocorticosteroid administration.
authors.affiliation: Princess Margaret Hospital, Perth, Western Australia.
authors.forename: Jason Kg
authors.initials: JK
authors.lastname: Tan
authors.affiliation: Princess Margaret Hospital, Perth, Western Australia.
authors.forename: Conor
authors.initials: C
authors.lastname: Murray
authors.affiliation: Princess Margaret Hospital, Perth, Western Australia.|Telethon Kids Institute, Perth, Western Australia.
authors.forename: Andre
authors.initials: A
authors.lastname: Schultz
mesh_terms: D018528:ATP-Binding Cassette Transporters / Q000235:genetics*; D003907:Dexamethasone / Q000627:therapeutic use*; D005260:Female; D005865:Gestational Age; D005938:Glucocorticoids / Q000627:therapeutic use*; D006720:Homozygote; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D007234:Infant, Premature; D017563:Lung Diseases, Interstitial / Q000188:drug therapy / Q000235:genetics*; D008775:Methylprednisolone / Q000627:therapeutic use*; D020125:Mutation, Missense; D016896:Treatment Outcome
chemical_list: D018528:ATP-Binding Cassette Transporters; D005938:Glucocorticoids; D003907:Dexamethasone; D008775:Methylprednisolone
keywords: VLBW; glucocorticosteroids; interstitial lung disease; prematurity; surfactant metabolism dysfunction