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

Kód výsledku v 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>

Nalezeny alternativní kódy

RIV/00216208:11130/10:6321

Výsledek na webu

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DOI - Digital Object Identifier

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Jazyk výsledku

angličtina

Název v původním jazyce

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

Popis výsledku v původním jazyce

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.

Název v anglickém jazyce

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

Popis výsledku anglicky

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.

Druh

J_x - Nezařazeno - Článek v odborném periodiku (Jimp, Jsc a Jost)

CEP obor

FC - Pneumologie

OECD FORD obor

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Projekt

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Návaznosti

Z - Vyzkumny zamer (s odkazem do CEZ)

Rok uplatnění

2010

Kód důvěrnosti údajů

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

Název periodika

American Journal of Respiratory and Critical Care Medicine

ISSN

1073-449X

e-ISSN

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Svazek periodika

182

Číslo periodika v rámci svazku

7

Stát vydavatele periodika

US - Spojené státy americké

Počet stran výsledku

8

Strana od-do

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Kód UT WoS článku

000282673200013

EID výsledku v databázi Scopus

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