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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