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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
- 발행연도
- 2017.1
- 수록면
- 63 - 65 (3page)
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초록· 키워드
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Familial dysalbuminemic hyperthyroxinemia (FDH) is an inherited disease characterized by increased circulating total thyroxine (T4) levels and normal physiological thyroid function. Heterozygous albumin gene (ALB) variants have been reported to be the underlying cause of FDH. To our knowledge, there have been no confirmed FDH cases in Korea. We recently observed a female patient with mild T4 elevation (1.2 to 1.4-fold) and variable levels of free T4 according to different assay methods. Upon Sanger sequencing of her ALB, a heterozygous c.725G>A (p.Arg242His) variant was identified. The patient’s father and eldest son had similar thyroid function test results and were confirmed to have the same variant. Although the prevalence of FDH might be very low in the Korean population, clinical suspicion is important to avoid unnecessary evaluation and treatment
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등록된 정보가 없습니다.
참고문헌 (13)
참고문헌 신청
Cartwright D / 2009 / Familial dysalbuminemic hyperthyroxinemia: a persistent diagnostic challenge / Clin Chem 55 : 1044 ~ 1046
DeCosimo DR / 1987 / Prevalence of familial dysalbuminemic hyperthyroxinemia in Hispanics / Ann Intern Med 107 : 780 ~ 781
Greenberg SM / 2014 / A novel mutation in the Albumin gene (R218S) causing familial dysalbuminemic hyperthyroxinemia in a family of Bangladeshi extraction / Thyroid 24 : 945
Jensen IW / 1988 / Familial dysalbuminaemic hyperthyroxinaemia: a review / J R Soc Med 81 : 34 ~ 37
Pannain S / 2000 / Familial dysalbuminemic hyperthyroxinemia in a Swiss family caused by a mutant albumin (R218P) shows an apparent discrepancy between serum concentration an
DeCosimo DR / 1987 / Prevalence of familial dysalbuminemic hyperthyroxinemia in Hispanics / Ann Intern Med 107 : 780 ~ 781
Greenberg SM / 2014 / A novel mutation in the Albumin gene (R218S) causing familial dysalbuminemic hyperthyroxinemia in a family of Bangladeshi extraction / Thyroid 24 : 945
Jensen IW / 1988 / Familial dysalbuminaemic hyperthyroxinaemia: a review / J R Soc Med 81 : 34 ~ 37
Pannain S / 2000 / Familial dysalbuminemic hyperthyroxinemia in a Swiss family caused by a mutant albumin (R218P) shows an apparent discrepancy between serum concentration an
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