Novel CFTR Mutations in a Korean Infant with Cystic Fibrosis and Pancreatic Insufficiency
Journal of Korean Medical Science
;
: 163-165, 2010.
Article
Dans Anglais
| WPRIM
| ID: wpr-176239
ABSTRACT
Cystic fibrosis (CF) is an autosomal recessive disease that is very rare in Asians only a few cases have been reported in Korea. We treated a female infant with CF who had steatorrhea and failure to thrive. Her sweat chloride concentration was 102.0 mM/L. Genetic analysis identified two novel mutations including a splice site mutation (c.1766+2T>C) and a frameshift mutation (c.3908dupA; Asn1303LysfsX6). Pancreatic enzyme replacement and fat-soluble vitamin supplementation enabled the patient to get a catch-up growth. This is the first report of a Korean patient with CF demonstrating pancreatic insufficiency. CF should therefore be considered in the differential diagnosis of infants with steatorrhea and failure to thrive.
Texte intégral:
Disponible
Indice:
WPRIM (Pacifique occidental)
Sujet Principal:
Insuffisance pancréatique exocrine
/
Séquence nucléotidique
/
Mutation avec décalage du cadre de lecture
/
Épissage alternatif
/
Protéine CFTR
/
Mucoviscidose
/
Stéatorrhée
/
Diagnostic différentiel
/
République de Corée
Type d'étude:
Etude diagnostique
/
Étude pronostique
Limites du sujet:
Femelle
/
Humains
/
Bébé
Pays comme sujet:
Asie
langue:
Anglais
Texte intégral:
Journal of Korean Medical Science
Année:
2010
Type:
Article
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