Clinical Phenotype and Genotype of Children with Borderline Sweat Test and Abnormal Nasal Epithelial Chloride Transport
| Autor: | Stéphanie Bui, Thierry Bienvenu, Philippe Reix, Gabriel Bellon, Emanuelle Girodon, E. Deneuville, Isabelle Sermet-Gaudelus, Nathalie Stremmler, Albert Iron, Veronika Skalická, Michel Roussey, F. Huet, Delphine Roussel, Gérard Lenoir, M. Lebourgeois, V. Vavrova, Dorota Sands, Milan Macek, Aleksander Edelman, Jacques Sarles, Anne Munck, Isabelle Fajac |
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| Rok vydání: | 2010 |
| Předmět: |
Pulmonary and Respiratory Medicine
medicine.medical_specialty Pathology Pancreatic disease Adolescent Cystic Fibrosis Genotype DNA Mutational Analysis Cystic Fibrosis Transmembrane Conductance Regulator Critical Care and Intensive Care Medicine Cystic fibrosis Gastroenterology SWEAT Chlorides Predictive Value of Tests Intensive care Internal medicine medicine Humans Child Sweat Sweat test biology medicine.diagnostic_test business.industry Respiratory disease Infant Reproducibility of Results medicine.disease Cystic fibrosis transmembrane conductance regulator Nasal Mucosa Phenotype Case-Control Studies biology.protein business Biomarkers |
| Zdroj: | American Journal of Respiratory and Critical Care Medicine. 182:929-936 |
| ISSN: | 1535-4970 1073-449X |
| DOI: | 10.1164/rccm.201003-0382oc |
| Popis: | The diagnosis of cystic fibrosis (CF) is based on a characteristic clinical picture in association with a sweat chloride (Cl(-)) concentration greater than 60 mmol/L or the identification of two CF-causing mutations. A challenging problem is the significant number of children for whom no definitive diagnosis is possible because they present with symptoms suggestive of CF, a sweat chloride level in the intermediate range between 30 and 60 mmol/L, and only one or no identified CF-causing mutation.To investigate the function of the cystic fibrosis transmembrane conductance regulator (CFTR) protein in the airways of children with intermediate sweat tests and inconclusive genetic findings in correlation with clinical phenotype and genotype.We developed a composite nasal potential difference (NPD) diagnostic score to discriminate patients with CF from non-CF patients. We tested NPD in 50 children (age, 6 mo to 18 yr) with equivocal diagnoses and correlated the NPD diagnostic score with clinical phenotypes and genotypes.Fifteen of the 50 children had NPD scores in the CF range. Eight of the 15 carried two CFTR mutations compared with only 5 of the 35 children with normal NPD scores (P = 0.01). They were significantly younger at evaluation and had recurrent lower respiratory tract infections, chronic productive coughs, and chronic Staphylococcus aureus colonization significantly more often than the 35 children with normal NPD results.Evaluation of CFTR function in the nasal epithelium of children with inconclusive CF diagnoses can be a useful diagnostic tool and help clinicians to individualize therapeutic strategy. |
| Databáze: | OpenAIRE |
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