Novel CFTR Mutations in a Korean Infant with Cystic Fibrosis and Pancreatic Insufficiency.
10.3346/jkms.2010.25.1.163
- Author:
Young June CHOE
1
;
Jae Sung KO
;
Jeong Kee SEO
;
Jae Jun HAN
;
Jung Ok SHIM
;
Young Yull KOH
;
Ran LEE
;
Chang Seok KI
;
Jong Won KIM
;
Jung Ho KIM
Author Information
1. Department of Pediatrics, Seoul National University College of Medicine, Seoul, Korea. jkseo@snu.ac.kr
- Publication Type:Case Reports
- Keywords:
Cystic Fibrosis;
Cystic Fibrosis Conductance Regulator;
Exocrine Pancreatic Insufficiency;
Mutation
- MeSH:
Alternative Splicing;
Base Sequence;
Cystic Fibrosis/complications/diagnosis/*genetics;
Cystic Fibrosis Transmembrane Conductance Regulator/*genetics;
Diagnosis, Differential;
Exocrine Pancreatic Insufficiency/complications/diagnosis/*genetics;
Female;
Frameshift Mutation;
Humans;
Infant;
Republic of Korea;
Steatorrhea/diagnosis
- From:Journal of Korean Medical Science
2010;25(1):163-165
- CountryRepublic of Korea
- Language:English
-
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.
