title: Surfactant Protein C-associated interstitial lung disease; three different phenotypes of the same SFTPC mutation.
abstract: BACKGROUND
  Monoallelic mutations of the Surfactant Protein C gene (SFTPC) are associated with Interstitial Lung Disease in children. I73T is the most common mutation, accounting for 30 % of all cases reported.
  
  
  METHODS
  We describe three patients carrying the same I73T SPC mutation with very different phenotypes, clinical course (ranging from mild respiratory symptoms to death for respiratory failure) and outcome.
  
  
  CONCLUSIONS
  The disease mechanisms associated with SP-C mutations suggest that the combination of individual genetic background and environmental factors contribute largely to the wide variability of clinical expression. Infants, children and adults with ILD of unknown etiology should be investigated for SP-C genetic abnormalities.
authors.affiliation: Pneumology Unit - Department of Pediatric Medicine, Bambino Gesù Children's Hospital, IRCCS, Piazza S Onofrio 4, 00165, Rome, Italy. teresa.salerno@opbg.net.
authors.forename: Teresa
authors.initials: T
authors.lastname: Salerno
authors.affiliation: Research Laboratory, Bambino Gesù Children's Hospital, IRCCS, Piazza S Onofrio 4, 00165, Rome, Italy. donatella.peca@opbg.net.
authors.forename: Donatella
authors.initials: D
authors.lastname: Peca
authors.affiliation: Department of Radiology, Bambino Gesù Children's Hospital, IRCCS, Piazza S Onofrio 4, 00165, Rome, Italy. laura.menchini@opbg.net.
authors.forename: Laura
authors.initials: L
authors.lastname: Menchini
authors.affiliation: Pneumology Unit - Department of Pediatric Medicine, Bambino Gesù Children's Hospital, IRCCS, Piazza S Onofrio 4, 00165, Rome, Italy. alessandra.schiavino@opbg.net.
authors.forename: Alessandra
authors.initials: A
authors.lastname: Schiavino
authors.affiliation: Department of Pathology, Bambino Gesù Children's Hospital, IRCCS, Piazza S Onofrio 4, 00165, Rome, Italy. renata.boldrini@opbg.net.
authors.forename: Renata
authors.initials: R
authors.lastname: Boldrini
authors.affiliation: Pneumology Unit - Pediatric Hospital Santobono, Via Mario Fiore 6, 80123, Napoli, Italy. ful.esp@virgilio.it.
authors.forename: Fulvio
authors.initials: F
authors.lastname: Esposito
authors.affiliation: Department of Pediatrics, University of California San Francisco, 101 Potrero Avenue, San Francisco, CA, 94110, USA. Olivier.Danhaive@ucsf.edu.|Department of Medical and Surgical Neonatology, Bambino Gesu' Children's Hospital, Piazza S.Onofrio 4, 00165, Rome, Italy. Olivier.Danhaive@ucsf.edu.
authors.forename: Olivier
authors.initials: O
authors.lastname: Danhaive
authors.affiliation: Pneumology Unit - Department of Pediatric Medicine, Bambino Gesù Children's Hospital, IRCCS, Piazza S Onofrio 4, 00165, Rome, Italy. renato.cutrera@opbg.net.
authors.forename: Renato
authors.initials: R
authors.lastname: Cutrera
mesh_terms: D002675:Child, Preschool; D003937:Diagnosis, Differential; D003952:Diagnostic Imaging; D005260:Female; D006801:Humans; D007223:Infant; D017563:Lung Diseases, Interstitial / Q000175:diagnosis* / Q000188:drug therapy / Q000235:genetics*; D008297:Male; D009154:Mutation; D010641:Phenotype; D037721:Pulmonary Surfactant-Associated Protein C / Q000235:genetics*
chemical_list: D037721:Pulmonary Surfactant-Associated Protein C