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논문 기본 정보
- 자료유형
- 학술저널
- 저자정보
- 발행연도
- 2018.1
- 수록면
- 122 - 154 (33page)
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Familial hypercholesterolemia (FH) is typically associated with single gene mutation that is inherited by autosomal dominant manner. Due to high cardiovascular risk, aggressive discovery, diagnosis, and treatment of FH are critical. Although FH is being increasingly spotlighted, we do not have sufficient data on Korean patients with FH. Here, we present the content of symposium of the Education Committee, Korean Society of Lipid and Atherosclerosis held in May 2018: 1) epidemiology, clinical diagnosis, Korean FH data, and regulation in Korea; 2) genes associated with FH, sequencing process in suspicious proband, cascade screening, and difficulty in genetic diagnosis in FH; 3) the importance of lipid-lowering therapy in FH, conventional and novel therapeutics for FH; 4) diagnosis of FH in children and adolescence, screening, and treatment of FH in children and adolescence; 5) history of FH studies in Korea, the structure and current status of FH registry of Korean Society of Lipid and Atherosclerosis; and 6) difficulty in diagnosis of heterozygous and homozygous FH, drug intolerance and achievement of treatment target. Discussion between speakers and panels were also added. We hope that this article is helpful for understanding FH and future studies performed in Korea.
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등록된 정보가 없습니다.
참고문헌 (16)
참고문헌 신청
Austin MA / 2004 / Genetic causes of monogenic heterozygous familial hypercholesterolemia: a HuGE prevalence review / Am J Epidemiol 160:407~420
Hovingh GK / 2013 / Diagnosis and treatment of familial hypercholesterolaemia / Eur Heart J 34:962~971
de Ferranti SD / 2016 / Prevalence of familial hypercholesterolemia in the 1999 to 2012 United States National Health and Nutrition Examination Surveys (NHANES) / Circulation 133:1067~1072
Shin DG / 2015 / Clinical features of familial hypercholesterolemia in Korea: predictors of pathogenic mutations and coronary artery disease - a study supported by the Korean Society of Lipidology and Atherosclerosis / Atherosclerosis 243:53~58
Han SM / 2015 / Genetic testing of Korean familial hypercholesterolemia using whole-exome sequencing / PLoS One 10:e0126706
Hovingh GK / 2013 / Diagnosis and treatment of familial hypercholesterolaemia / Eur Heart J 34:962~971
de Ferranti SD / 2016 / Prevalence of familial hypercholesterolemia in the 1999 to 2012 United States National Health and Nutrition Examination Surveys (NHANES) / Circulation 133:1067~1072
Shin DG / 2015 / Clinical features of familial hypercholesterolemia in Korea: predictors of pathogenic mutations and coronary artery disease - a study supported by the Korean Society of Lipidology and Atherosclerosis / Atherosclerosis 243:53~58
Han SM / 2015 / Genetic testing of Korean familial hypercholesterolemia using whole-exome sequencing / PLoS One 10:e0126706
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