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학술연구/단체지원/교육 등 연구자 활동을 지속하도록 DBpia가 지원하고 있어요.
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논문 기본 정보
- 자료유형
- 학술저널
- 저자정보
- 발행연도
- 2020.1
- 수록면
- 627 - 639 (13page)
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초록· 키워드
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Monogenic diabetes, including maturity-onset diabetes of the young, neonatal diabetes, and other rare forms of diabetes, results from a single gene mutation. It has been estimated to represent around 1% to 6% of all diabetes. With the advances in genome sequencing technology, it is possible to diagnose more monogenic diabetes cases than ever before. In Korea, 11 studies have identified several monogenic diabetes cases, using Sanger sequencing and whole exome sequencing since 2001. The recent largest study, using targeted exome panel sequencing, found a molecular diagnosis rate of 21.1% for monogenic diabetes in clinically suspected patients. Mutations in glucokinase (GCK), hepatocyte nuclear factor 1α (HNF1A), and HNF4A were most commonly found. Genetic diagnosis of monogenic diabetes is important as it determines the therapeutic approach required for patients and helps to identify affected family members. However, there are still many challenges, which include a lack of simple clinical criterion for selecting patients for genetic testing, difficulties in interpreting the genetic test results, and high costs for genetic testing. In this review, we will discuss the latest updates on monogenic diabetes in Korea, and suggest an algorithm to screen patients for genetic testing. The genetic tests and non-genetic markers for accurate diagnosis of monogenic diabetes will be also reviewed.
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등록된 정보가 없습니다.
참고문헌 (87)
참고문헌 신청
김성훈 / 2015 / Maturity-Onset Diabetes of the Young: What Do Clinicians Need to Know? / Diabetes and Metabolism Journal 39(6):468~477
Urakami T / 2019 / Maturity-onset diabetes of the young(MODY) : current perspectives on diagnosis and treatment / Diabetes Metab Syndr Obes 12:1047~1056
Tattersall RB / 1974 / Mild familial diabetes with dominant inheritance / Q J Med 43:339~357
Panzram G / 1981 / Heterogeneity of maturity onset diabetes at young age(MODY) / Lancet 2:986
Ledermann HM / 1995 / Is maturity onset diabetes at young age (MODY) more common in Europe than previously assumed? / Lancet 345:648
Urakami T / 2019 / Maturity-onset diabetes of the young(MODY) : current perspectives on diagnosis and treatment / Diabetes Metab Syndr Obes 12:1047~1056
Tattersall RB / 1974 / Mild familial diabetes with dominant inheritance / Q J Med 43:339~357
Panzram G / 1981 / Heterogeneity of maturity onset diabetes at young age(MODY) / Lancet 2:986
Ledermann HM / 1995 / Is maturity onset diabetes at young age (MODY) more common in Europe than previously assumed? / Lancet 345:648
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