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Clinical Phenotype and Genotype of Children with Borderline Sweat Test and Abnormal Nasal Epithelial Chloride Transport

The result's identifiers

  • Result code in IS VaVaI

    <a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00064203%3A_____%2F10%3A6321" target="_blank" >RIV/00064203:_____/10:6321 - isvavai.cz</a>

  • Alternative codes found

    RIV/00216208:11130/10:6321

  • Result on the web

  • DOI - Digital Object Identifier

Alternative languages

  • Result language

    angličtina

  • Original language name

    Clinical Phenotype and Genotype of Children with Borderline Sweat Test and Abnormal Nasal Epithelial Chloride Transport

  • Original language description

    A significant number of children have symptoms suggestive of cystic fibrosis (CF) but cannot be definitively diagnosed because they have a sweat chloride level in the intermediate range, between 30 and 60 mmol/L, and only one or no identified CF-causingmutation. Our collaborative international study in children in this equivocal situation found that those with nasal potential difference results in the CF range were significantly younger at evaluation, had significantly more frequent symptoms consistentwith CF lung disease, and were subsequently found to carry two cystic fibrosis transmembrane conductance regulator (CFTR) mutations more often. 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.

  • Czech name

  • Czech description

Classification

  • Type

    J<sub>x</sub> - Unclassified - Peer-reviewed scientific article (Jimp, Jsc and Jost)

  • CEP classification

    FC - Pneumology

  • OECD FORD branch

Result continuities

  • Project

  • Continuities

    Z - Vyzkumny zamer (s odkazem do CEZ)

Others

  • Publication year

    2010

  • Confidentiality

    S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

Data specific for result type

  • Name of the periodical

    American Journal of Respiratory and Critical Care Medicine

  • ISSN

    1073-449X

  • e-ISSN

  • Volume of the periodical

    182

  • Issue of the periodical within the volume

    7

  • Country of publishing house

    US - UNITED STATES

  • Number of pages

    8

  • Pages from-to

  • UT code for WoS article

    000282673200013

  • EID of the result in the Scopus database