Novel CFTR Mutations in a Korean Infant with Cystic Fibrosis and Pancreatic Insufficiency
Journal of Korean Medical Science
;
: 163-165, 2010.
Artigo
em Inglês
| 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.
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Insuficiência Pancreática Exócrina
/
Sequência de Bases
/
Mutação da Fase de Leitura
/
Processamento Alternativo
/
Regulador de Condutância Transmembrana em Fibrose Cística
/
Fibrose Cística
/
Esteatorreia
/
Diagnóstico Diferencial
/
República da Coreia
Tipo de estudo:
Estudo diagnóstico
/
Estudo prognóstico
Limite:
Feminino
/
Humanos
/
Lactente
País/Região como assunto:
Ásia
Idioma:
Inglês
Revista:
Journal of Korean Medical Science
Ano de publicação:
2010
Tipo de documento:
Artigo
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