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.

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, M. Lucarelli, V. Lucidi, A. Macchiaroli, E. Madarena, R. Padoan, S. Quattrucci, D. Salvatore, F. Zarrilli, V. Raia. - In: JOURNAL OF CYSTIC FIBROSIS. - ISSN 1569-1993. - 14:4(2015 Jul), pp. 447-452. [10.1016/j.jcf.2014.12.012]

Clinical expression of patients with the D1152H CFTR mutation

C. Colombo;F. Corti;A. D'Adda;
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 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.
Cystic fibrosis; D1152H; Genotype/phenotype; Neonatal screening; Pulmonary and Respiratory Medicine; Pediatrics, Perinatology and Child Health
Settore MED/38 - Pediatria Generale e Specialistica
lug-2015
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/2434/290461
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