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
- 저널정보
- 대한소아소화기영양학회 Pediatric Gastroenterology, Hepatology & Nutrition Pediatric Gastroenterology, Hepatology & Nutrition 제21권 제2호
- 발행연도
- 2018.1
- 수록면
- 134 - 140 (7page)
이용수
초록· 키워드
오류제보하기
Chylomicron retention disease, also known as Anderson’s disease, is a rare hereditary hypocholesterolemic dis-order, recessive inherited, characterized by nonspecific symptoms as abdominal distension, steatorrhea, and vomit-ing associated with failure to thrive. We describe a patient with failure to thrive, chronic diarrhea and steatorrhea who the diagnosis of chylomicron retention disease was established after several months of disease progression. The genetic study confirmed a homozygosity mutation in SAR1B gene, identifying a mutation never previous de-scribed [c.83_84delTG(p.Leu28Argfs*7)]. With this case report the authors aim to highlight for this very rare cause of failure to thrive and for the importance of an attempting diagnosis, in order to start adequate management with low fat diet supplemented with fat-soluble vitamins, reverting the state of malnutrition and avoiding possible irrever-sible and desvantating complications.
목차
등록된 정보가 없습니다.
참고문헌 (11)
참고문헌 신청
Jaffe AC / 2011 / Failure to thrive: current clinical concepts / Pediatr Rev 32:100~107
Peretti N / 2010 / Guidelines for the diagnosis and management of chylomicron retention disease based on a review of the literature and the experience of two centers / Orphanet J Rare Dis 5:24
Okada T / 2011 / Anderson's disease/chylomicron retention disease in a Japanese patient with uniparental disomy 7 and a normal SAR1B gene protein coding sequence / Orphanet J Rare Dis 6:78
Peretti N / 2009 / Chylomicron retention disease: a long term study of two cohorts / Mol Genet Metab 97:136~142
Sassolas A / 2012 / Anderson's Disease/ Chylomicron Retention Disease and Mutations in the SAR1B Gene, Mutations in Human Genetic Disease, Prof. David Cooper (Ed.)
Peretti N / 2010 / Guidelines for the diagnosis and management of chylomicron retention disease based on a review of the literature and the experience of two centers / Orphanet J Rare Dis 5:24
Okada T / 2011 / Anderson's disease/chylomicron retention disease in a Japanese patient with uniparental disomy 7 and a normal SAR1B gene protein coding sequence / Orphanet J Rare Dis 6:78
Peretti N / 2009 / Chylomicron retention disease: a long term study of two cohorts / Mol Genet Metab 97:136~142
Sassolas A / 2012 / Anderson's Disease/ Chylomicron Retention Disease and Mutations in the SAR1B Gene, Mutations in Human Genetic Disease, Prof. David Cooper (Ed.)
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