Novel CFTR Mutations in a Korean Infant with Cystic Fibrosis and Pancreatic Insufficiency
Journal of Korean Medical Science
;
: 163-165, 2010.
Article
in English
| 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.
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Exocrine Pancreatic Insufficiency
/
Base Sequence
/
Frameshift Mutation
/
Alternative Splicing
/
Cystic Fibrosis Transmembrane Conductance Regulator
/
Cystic Fibrosis
/
Steatorrhea
/
Diagnosis, Differential
/
Republic of Korea
Type of study:
Diagnostic study
/
Prognostic study
Limits:
Female
/
Humans
/
Infant
Country/Region as subject:
Asia
Language:
English
Journal:
Journal of Korean Medical Science
Year:
2010
Type:
Article
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