title: Clinical expression of patients with the D1152H CFTR mutation.
abstract: BACKGROUND
  Discordant results were reported on the clinical expression of subjects bearing the D1152H CFTR mutation, and also for the small number of cases reported so far.
  
  
  METHODS
  A retrospective review of clinical, genetic and biochemical data was performed from individuals homozygous or compound heterozygous for the D1152H mutation followed in 12 Italian cystic fibrosis (CF) centers.
  
  
  RESULTS
  89 subjects carrying at least D1152H on one allele were identified. 7 homozygous patients had very mild clinical expression. Over half of the 74 subjects compound heterozygous for D1152H and a I-II-III class mutation had borderline or pathological sweat test and respiratory or gastrointestinal symptoms; one third had pulmonary bacteria colonization and 10/74 cases had complications (i.e. diabetes, allergic bronchopulmonary aspergillosis, and hemoptysis). However, their clinical expression was less severe as compared to a group of CF patients homozygous for the F508del mutation. Finally, 8 subjects compound heterozygous for D1152H and a IV-V class mutation showed very mild disease.
  
  
  CONCLUSIONS
  The natural history of subjects bearing the D1152H mutation is widely heterogeneous and is influenced by the mutation in trans.
authors.affiliation: Dipartimento di Scienze Mediche Traslazionali, Sezione di Pediatria, Università di Napoli Federico II, Naples, Italy.
authors.forename: Vito
authors.initials: V
authors.lastname: Terlizzi
authors.affiliation: Centro Fibrosi Cistica Adulti, Dipartimento di Scienze Traslazionali, Università di Napoli Federico II, Naples, Italy.
authors.forename: Vincenzo
authors.initials: V
authors.lastname: Carnovale
authors.affiliation: CEINGE-Biotecnologie avanzate, Naples, Italy; Dipartimento di Medicina Molecolare e Biotecnologie Mediche, Università di Napoli Federico II, Naples, Italy.
authors.forename: Giuseppe
authors.initials: G
authors.lastname: Castaldo
authors.affiliation: Centro Fibrosi Cistica, Azienda Ospedaliera Universitaria Integrata, Verona, Italy.
authors.forename: Carlo
authors.initials: C
authors.lastname: Castellani
authors.affiliation: Centro Regionale Fibrosi Cistica, Dipartimento Materno-Infantile, Ospedali Riuniti Ancona, Ancona, Italy.
authors.forename: Natalia
authors.initials: N
authors.lastname: Cirilli
authors.affiliation: Centro Fibrosi Cistica, Fondazione IRCCS Ca' Granda, Ospedale Maggiore Policlinico, Milano, Italy.
authors.forename: Carla
authors.initials: C
authors.lastname: Colombo
authors.affiliation: Centro Fibrosi Cistica, Fondazione IRCCS Ca' Granda, Ospedale Maggiore Policlinico, Milano, Italy.
authors.forename: Fabiola
authors.initials: F
authors.lastname: Corti
authors.affiliation: Centro Fibrosi Cistica, Dipartimento di Pediatria, IRCCS G. Gaslini, Genova, Italy.
authors.forename: Federico
authors.initials: F
authors.lastname: Cresta
authors.affiliation: Centro Fibrosi Cistica, Fondazione IRCCS Ca' Granda, Ospedale Maggiore Policlinico, Milano, Italy.
authors.forename: Alice
authors.initials: A
authors.lastname: D'Adda
authors.affiliation: Dipartimento di Biotecnologie Cellulari ed Ematologia, Istituto Pasteur Fondazione Cenci Bolognetti, Sapienza Università e Policlinico Umberto I, Rome, Italy.
authors.forename: Marco
authors.initials: M
authors.lastname: Lucarelli
authors.affiliation: Unità di Fibrosi Cistica, IRCCS Ospedale Pediatrico Bambin Gesù, Rome, Italy.
authors.forename: Vincenzina
authors.initials: V
authors.lastname: Lucidi
authors.affiliation: Centro Regionale Fibrosi Cistica, Ospedale Cardarelli, Campobasso, Italy.
authors.forename: Annamaria
authors.initials: A
authors.lastname: Macchiaroli
authors.affiliation: Centro Fibrosi Cistica, Ospedale Giovanni Paolo II, Lamezia, Italy.
authors.forename: Elisa
authors.initials: E
authors.lastname: Madarena
authors.affiliation: Centro di supporto Fibrosi Cistica, Dipartimento di Pediatria, Università di Brescia, Brescia, Italy.
authors.forename: Rita
authors.initials: R
authors.lastname: Padoan
authors.affiliation: Dipartimento di Pediatria, Centro Fibrosi Cistica, Sapienza Università e Policlinico Umberto I, Rome, Italy.
authors.forename: Serena
authors.initials: S
authors.lastname: Quattrucci
authors.affiliation: Centro Fibrosi Cistica, Centro Pediatrico Bambino Gesù Basilicata, AOR San Carlo, Potenza, Italy.
authors.forename: Donatello
authors.initials: D
authors.lastname: Salvatore
authors.affiliation: Dipartimento di Bioscienze e Territorio, Università del Molise, Isernia, Italy.
authors.forename: Federica
authors.initials: F
authors.lastname: Zarrilli
authors.affiliation: Dipartimento di Scienze Mediche Traslazionali, Sezione di Pediatria, Università di Napoli Federico II, Naples, Italy. Electronic address: raia@unina.it.
authors.forename: Valeria
authors.initials: V
authors.lastname: Raia
mesh_terms: D000293:Adolescent; D000328:Adult; D000367:Age Factors; D000368:Aged; D002648:Child; D002675:Child, Preschool; D003550:Cystic Fibrosis / Q000150:complications* / Q000235:genetics*; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000235:genetics*; D005260:Female; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D007223:Infant; D007558:Italy; D008297:Male; D008875:Middle Aged; D009154:Mutation / Q000235:genetics*; D010641:Phenotype; D012189:Retrospective Studies; D055815:Young Adult
chemical_list: D019005:Cystic Fibrosis Transmembrane Conductance Regulator
keywords: Cystic fibrosis; D1152H; Genotype/phenotype; Neonatal screening