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Clinical phenotype and genotype of children with borderline sweat test and abnormal nasal epithelial chloride transport.
Am J Respir Crit Care Med. 2010 Oct 01; 182(7):929-36.AJ

Abstract

RATIONALE

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.

OBJECTIVES

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.

METHODS

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.

MEASUREMENTS AND MAIN RESULTS

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.

CONCLUSIONS

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.

Authors+Show Affiliations

Centre de Référence et de Compétence en Mucoviscidose, Hôpital Necker-Enfants Malades, Paris, France. isabelle.sermet@nck.aphp.frNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

20538955

Citation

Sermet-Gaudelus, Isabelle, et al. "Clinical Phenotype and Genotype of Children With Borderline Sweat Test and Abnormal Nasal Epithelial Chloride Transport." American Journal of Respiratory and Critical Care Medicine, vol. 182, no. 7, 2010, pp. 929-36.
Sermet-Gaudelus I, Girodon E, Sands D, et al. Clinical phenotype and genotype of children with borderline sweat test and abnormal nasal epithelial chloride transport. Am J Respir Crit Care Med. 2010;182(7):929-36.
Sermet-Gaudelus, I., Girodon, E., Sands, D., Stremmler, N., Vavrova, V., Deneuville, E., Reix, P., Bui, S., Huet, F., Lebourgeois, M., Munck, A., Iron, A., Skalicka, V., Bienvenu, T., Roussel, D., Lenoir, G., Bellon, G., Sarles, J., Macek, M., ... Edelman, A. (2010). Clinical phenotype and genotype of children with borderline sweat test and abnormal nasal epithelial chloride transport. American Journal of Respiratory and Critical Care Medicine, 182(7), 929-36. https://doi.org/10.1164/rccm.201003-0382OC
Sermet-Gaudelus I, et al. Clinical Phenotype and Genotype of Children With Borderline Sweat Test and Abnormal Nasal Epithelial Chloride Transport. Am J Respir Crit Care Med. 2010 Oct 1;182(7):929-36. PubMed PMID: 20538955.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Clinical phenotype and genotype of children with borderline sweat test and abnormal nasal epithelial chloride transport. AU - Sermet-Gaudelus,Isabelle, AU - Girodon,Emanuelle, AU - Sands,Dorota, AU - Stremmler,Nathalie, AU - Vavrova,Vera, AU - Deneuville,Eric, AU - Reix,Philippe, AU - Bui,Stéphanie, AU - Huet,Frédéric, AU - Lebourgeois,Muriel, AU - Munck,Anne, AU - Iron,Albert, AU - Skalicka,Veronika, AU - Bienvenu,Thierry, AU - Roussel,Delphine, AU - Lenoir,Gérard, AU - Bellon,Gabriel, AU - Sarles,Jacques, AU - Macek,Milan, AU - Roussey,Michel, AU - Fajac,Isabelle, AU - Edelman,Aleksander, Y1 - 2010/06/10/ PY - 2010/6/12/entrez PY - 2010/6/12/pubmed PY - 2010/10/22/medline SP - 929 EP - 36 JF - American journal of respiratory and critical care medicine JO - Am. J. Respir. Crit. Care Med. VL - 182 IS - 7 N2 - RATIONALE: 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. OBJECTIVES: 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. METHODS: 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. MEASUREMENTS AND MAIN RESULTS: 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. CONCLUSIONS: 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. SN - 1535-4970 UR - https://www.unboundmedicine.com/medline/citation/20538955/Clinical_phenotype_and_genotype_of_children_with_borderline_sweat_test_and_abnormal_nasal_epithelial_chloride_transport_ L2 - http://www.atsjournals.org/doi/full/10.1164/rccm.201003-0382OC?url_ver=Z39.88-2003&rfr_id=ori:rid:crossref.org&rfr_dat=cr_pub=pubmed DB - PRIME DP - Unbound Medicine ER -