지원사업
학술연구/단체지원/교육 등 연구자 활동을 지속하도록 DBpia가 지원하고 있어요.
커뮤니티
연구자들이 자신의 연구와 전문성을 널리 알리고, 새로운 협력의 기회를 만들 수 있는 네트워킹 공간이에요.
논문 기본 정보
- 자료유형
- 학술저널
- 저자정보
- 발행연도
- 2012.1
- 수록면
- 312 - 315 (4page)
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초록· 키워드
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Congenital chloride diarrhea (CLD) is an autosomal recessive disorder with the hallmark of persistent watery Cl--rich diarrhea from birth. Mutations in the solute carrier family 26, member 3 (SLC26A3) gene, which encodes a coupled Cl-/HCO3 - exchanger in the ileum and colon, are known to cause CLD. Although there are a few reports of CLD patients in Korea, none of these had been confirmed by genetic analysis. Here, we describe the case of a Korean infant with clinical features of CLD. Using direct sequencing analysis, we identified 2 sequence variants: a missense variant of unknown significance (c.525G>C; p.Arg175 Ser) and a splicing mutation (c.2063-1G>T) in the SLC26A3 gene; these had been inherited from the father and mother, respectively. Whilst CLD is rare, its main symptom, diarrhea, is very common in infants. Hence, the diagnosis of CLD can prove difficult. Mutational analysis of the SLC26A3 gene should be considered as a viable method to confirm a diagnosis of CLD in Korean infants with persistent diarrhea.
목차
등록된 정보가 없습니다.
참고문헌 (13)
참고문헌 신청
Darrow D / 1945 / Congenital alkalosis with diarrhea / J Pediatr 26 : 519 ~ 532
Hoglund P / 1996 / Mutations of the down-regulated in adenoma (DRA) gene cause congenital chloride diarrhoea / Nat Genet 14 : 316 ~ 319
Hoglund P / 1998 / Genetic background of congenital chloride diarrhea in high-incidence populations: Finland, Poland, and Saudi Arabia and Kuwait / Am J Hum Genet 63 : 760 ~
Holmberg C / 1978 / Electrolyte economy and its hormonal regulation in congenital chloride diarrhea / Pediatr Res 12 : 82 ~ 86
Holmberg C. / 1986 / Congenital chloride diarrhoea / Clin Gastroenterol 15 : 583 ~ 602
Hoglund P / 1996 / Mutations of the down-regulated in adenoma (DRA) gene cause congenital chloride diarrhoea / Nat Genet 14 : 316 ~ 319
Hoglund P / 1998 / Genetic background of congenital chloride diarrhea in high-incidence populations: Finland, Poland, and Saudi Arabia and Kuwait / Am J Hum Genet 63 : 760 ~
Holmberg C / 1978 / Electrolyte economy and its hormonal regulation in congenital chloride diarrhea / Pediatr Res 12 : 82 ~ 86
Holmberg C. / 1986 / Congenital chloride diarrhoea / Clin Gastroenterol 15 : 583 ~ 602
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