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KMID : 0191120100250010163
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Journal of Korean Medical Science
2010 Volume.25 No. 1 p.163 ~ p.165
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Novel CFTR Mutations in a Korean Infant with Cystic Fibrosis and Pancreatic Insufficiency
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Choe Young-June
Ko Jae-Sung
Seo Jeong-Kee
Han Jae-Jun
Shim Jung-Ok
Koh Young-Yull
Ki Chang-Seok
Lee Ran
Kim Jong-Won
Kim Jeong-Ho
Ko Jae-Sung
Seo Jeong-Kee
Han Jae-Jun
Shim Jung-Ok
Koh Young-Yull
Lee Ran
Ki Chang-Seok
Kim Jong-Won
Kim Jung-Ho
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Abstract
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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.
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KEYWORD
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Cystic Fibrosis, Cystic Fibrosis Conductance Regulator, Exocrine Pancreatic Insufficiency, Mutation
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