title: Severe liver impairment in a cystic fibrosis-affected child homozygous for the G542X mutation.
abstract: The clinical and laboratory findings of a cystic fibrosis (CF) patient homozygous for the G542X mutation are described. This is the first case, among the 7 G542X homozygous CF subjects described so far who shows severe liver involvement, associated pancreatic insufficiency, and moderate pulmonary expression of the disease, as demonstrated by laboratory and imaging data. This case adds to the conclusion that genotype/phenotype correlation in cystic fibrosis is more complex than formerly suspected.
authors.affiliation: Dipartimento di Biochimica e Biotecnologie Mediche, Facoltà di Medicina e Chirurgia, Università di Napoli Federico II, Italy.
authors.forename: G
authors.initials: G
authors.lastname: Castaldo
authors.forename: E
authors.initials: E
authors.lastname: Rippa
authors.forename: D
authors.initials: D
authors.lastname: Salvatore
authors.forename: R
authors.initials: R
authors.lastname: Sibillo
authors.forename: V
authors.initials: V
authors.lastname: Raia
authors.forename: G
authors.initials: G
authors.lastname: de Ritis
authors.forename: F
authors.initials: F
authors.lastname: Salvatore
mesh_terms: D002648:Child; D003550:Cystic Fibrosis / Q000150:complications* / Q000235:genetics; D005260:Female; D005838:Genotype; D006720:Homozygote; D006801:Humans; D017093:Liver Failure / Q000150:complications*; D009154:Mutation; D010641:Phenotype; D016133:Polymerase Chain Reaction