Vito Terlizzi1, Vincenzo Carnovale2, Giuseppe Castaldo3, Carlo Castellani4, Natalia Cirilli5, Carla Colombo6, Fabiola Corti6, Federico Cresta7, Alice D'Adda6, Marco Lucarelli8, Vincenzina Lucidi9, Annamaria Macchiaroli10, Elisa Madarena11, Rita Padoan12, Serena Quattrucci13, Donatello Salvatore14, Federica Zarrilli15, Valeria Raia16. 1. Dipartimento di Scienze Mediche Traslazionali, Sezione di Pediatria, Università di Napoli Federico II, Naples, Italy. 2. Centro Fibrosi Cistica Adulti, Dipartimento di Scienze Traslazionali, Università di Napoli Federico II, Naples, Italy. 3. CEINGE-Biotecnologie avanzate, Naples, Italy; Dipartimento di Medicina Molecolare e Biotecnologie Mediche, Università di Napoli Federico II, Naples, Italy. 4. Centro Fibrosi Cistica, Azienda Ospedaliera Universitaria Integrata, Verona, Italy. 5. Centro Regionale Fibrosi Cistica, Dipartimento Materno-Infantile, Ospedali Riuniti Ancona, Ancona, Italy. 6. Centro Fibrosi Cistica, Fondazione IRCCS Ca' Granda, Ospedale Maggiore Policlinico, Milano, Italy. 7. Centro Fibrosi Cistica, Dipartimento di Pediatria, IRCCS G. Gaslini, Genova, Italy. 8. Dipartimento di Biotecnologie Cellulari ed Ematologia, Istituto Pasteur Fondazione Cenci Bolognetti, Sapienza Università e Policlinico Umberto I, Rome, Italy. 9. Unità di Fibrosi Cistica, IRCCS Ospedale Pediatrico Bambin Gesù, Rome, Italy. 10. Centro Regionale Fibrosi Cistica, Ospedale Cardarelli, Campobasso, Italy. 11. Centro Fibrosi Cistica, Ospedale Giovanni Paolo II, Lamezia, Italy. 12. Centro di supporto Fibrosi Cistica, Dipartimento di Pediatria, Università di Brescia, Brescia, Italy. 13. Dipartimento di Pediatria, Centro Fibrosi Cistica, Sapienza Università e Policlinico Umberto I, Rome, Italy. 14. Centro Fibrosi Cistica, Centro Pediatrico Bambino Gesù Basilicata, AOR San Carlo, Potenza, Italy. 15. Dipartimento di Bioscienze e Territorio, Università del Molise, Isernia, Italy. 16. Dipartimento di Scienze Mediche Traslazionali, Sezione di Pediatria, Università di Napoli Federico II, Naples, Italy. Electronic address: raia@unina.it.
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.
BACKGROUND: Discordant results were reported on the clinical expression of subjects bearing the D1152HCFTR 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 CFpatients 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: A M Di Lullo; M Scorza; F Amato; M Comegna; V Raia; L Maiuri; G Ilardi; E Cantone; G Castaldo; M Iengo Journal: Acta Otorhinolaryngol Ital Date: 2017-06 Impact factor: 2.124
Authors: Manuela Sterrantino; Andrea Fuso; Silvia Pierandrei; Sabina Maria Bruno; Giancarlo Testino; Giuseppe Cimino; Antonio Angeloni; Marco Lucarelli Journal: Diagnostics (Basel) Date: 2021-01-25
Authors: Vito Terlizzi; Rita Padoan; Laura Claut; Carla Colombo; Benedetta Fabrizzi; Marco Lucarelli; Sabina Maria Bruno; Alice Castaldo; Paolo Bonomi; Giovanni Taccetti; Antonella Tosco Journal: Diagnostics (Basel) Date: 2020-12-12