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
Clinical expression of patients with the D1152H CFTR mutation / V., Terlizzi; V., Carnovale; G., Castaldo; C., Castellani; N., Cirilli; C., Colombo; F., Corti; F., Cresta; A., D'Adda; Lucarelli, Marco; V., Lucidi; A., Macchiaroli; E., Madarena; R., Padoan; Quattrucci, Serena; D., Salvatore; F., Zarrilli; V., Raia. - In: JOURNAL OF CYSTIC FIBROSIS. - ISSN 1569-1993. - STAMPA. - 14:(2015), pp. 447-452. [10.1016/j.jcf.2014.12.012]
Clinical expression of patients with the D1152H CFTR mutation
LUCARELLI, Marco;QUATTRUCCI, Serena;
2015
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 bronchopulmonaryFile | Dimensione | Formato | |
---|---|---|---|
Terlizzi_Clinical_2015.pdf
solo gestori archivio
Note: Articolo principale
Tipologia:
Documento in Post-print (versione successiva alla peer review e accettata per la pubblicazione)
Licenza:
Tutti i diritti riservati (All rights reserved)
Dimensione
314.58 kB
Formato
Adobe PDF
|
314.58 kB | Adobe PDF | Contatta l'autore |
I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.