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학술연구/단체지원/교육 등 연구자 활동을 지속하도록 DBpia가 지원하고 있어요.
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연구자들이 자신의 연구와 전문성을 널리 알리고, 새로운 협력의 기회를 만들 수 있는 네트워킹 공간이에요.
논문 기본 정보
- 자료유형
- 학술저널
- 저자정보
- 저널정보
- 대한소아내분비학회 Annals of Pediatirc Endocrinology & Metabolism Annals of Pediatirc Endocrinology & Metabolism 제21권 제1호
- 발행연도
- 2016.1
- 수록면
- 7 - 14 (8page)
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초록· 키워드
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Sitosterolemia is an autosomal recessive disorder characterized by increased plant sterol levels, xanthomas, and accelerated atherosclerosis. Although it was originally reported in patients with normolipemic xanthomas, severe hypercholesterolemia have been reported in patients with sitosterolemia, especially in children.
Sitosterolemia is caused by increased intestinal absorption and decreased biliary excretion of sterols resulting from biallelic mutations in either ABCG5 or ABCG8, which encode the sterol efflux transporter ABCG5 and ABCG8. Patients with sitosterolemia show extreme phenotypic heterogeneity, ranging from almost asymptomatic individuals to those with severe hypercholesterolemia leading to accelerated atherosclerosis and premature cardiac death.
Hematologic manifestations include hemolytic anemia with stomatocytosis, macrothrombocytopenia, splenomegaly, and abnormal bleeding. The mainstay of therapy includes dietary restriction of both cholesterol and plant sterols and the sterol absorption inhibitor, ezetimibe. Foods rich in plant sterols include vegetable oils, wheat germs, nuts, seeds, avocado, shortening, margarine and chocolate. Hypercholesterolemia in patients with sitosterolemia is dramatically responsive to low cholesterol diet and bile acid sequestrants. Plant sterol assay should be performed in patients with normocholesterolemic xanthomas, hypercholesterolemia with unexpectedly good response to dietary modifications or to cholesterol absorption inhibitors, or hypercholesterolemia with poor response to statins, or those with unexplained hemolytic anemia and macrothrombocytopenia.
Because prognosis can be improved by proper management, it is important to find these patients out and diagnose correctly. This review article aimed to summarize recent publications on sitosterolemia, and to suggest clinical indications for plant sterol assay.
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참고문헌 (66)
참고문헌 신청
Salen G / 1992 / Sitosterolemia / J Lipid Res 33:945~955
Merkens LS / Sitosterolemia. GeneReviews
Berge KE / 2000 / Accumulation of dietary cholesterol in sitosterolemia caused by mutations in adjacent ABC transporters / Science 290:1771~1775
Lu K / 2001 / Two genes that map to the STSL locus cause sitosterolemia: genomic structure and spectrum of mutations involving sterolin-1 and sterolin-2, encoded by ABCG5 and ABCG8, respectively / Am J Hum Genet 69:278~290
Patel SB / 2014 / Recent advances in understanding the STSL locus and ABCG5/ABCG8 biology / Curr Opin Lipidol 25:169~175
Merkens LS / Sitosterolemia. GeneReviews
Berge KE / 2000 / Accumulation of dietary cholesterol in sitosterolemia caused by mutations in adjacent ABC transporters / Science 290:1771~1775
Lu K / 2001 / Two genes that map to the STSL locus cause sitosterolemia: genomic structure and spectrum of mutations involving sterolin-1 and sterolin-2, encoded by ABCG5 and ABCG8, respectively / Am J Hum Genet 69:278~290
Patel SB / 2014 / Recent advances in understanding the STSL locus and ABCG5/ABCG8 biology / Curr Opin Lipidol 25:169~175
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