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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
- 2019.1
- 수록면
- 700 - 703 (4page)
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Congenital analbuminemia (CAA) is an autosomal recessive disease characterized by extremely low serum levels of albumin. CAA is caused by various homozygous or heterozygous mutations of the ALB gene. Patients often exhibit no clinical symptoms,aside from rare accompanying conditions, such as fatigue, ankle edema, and hypotension. This case report describes the case of a28-year-old asymptomatic Korean male referred to our center with hypocalcemia, vitamin D deficiency, and hypoalbuminemiawho was diagnosed with CAA. To determine the cause of hypoalbuminemia in the patient, laboratory tests, radiological examination,and DNA sequencing were performed. The patient was confirmed to not exhibit any other clinical conditions that can inducehypoalbuminemia and was diagnosed with CAA using DNA sequencing. The present case of CAA is the first to be reportedin Korea.
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참고문헌 (10)
참고문헌 신청
Minchiotti L / 2013 / Congenital analbuminaemia : molecular defects and biochemical and clinical aspects / Biochim Biophys Acta 1830:5494~5502
Peters T Jr / 1996 / All about albumin: biochemistry, genetics and medical applications / Academic Press, Inc
Minchiotti L / 2008 / Mutations and polymorphisms of the gene of the major human blood protein, serum albumin / Hum Mutat 29:1007~1016
Koot BG / 2004 / Congenital analbuminaemia:biochemical and clinical implications. A case report and literature review / Eur J Pediatr 163:664~670
Minchiotti L / The Albumin Web site
Peters T Jr / 1996 / All about albumin: biochemistry, genetics and medical applications / Academic Press, Inc
Minchiotti L / 2008 / Mutations and polymorphisms of the gene of the major human blood protein, serum albumin / Hum Mutat 29:1007~1016
Koot BG / 2004 / Congenital analbuminaemia:biochemical and clinical implications. A case report and literature review / Eur J Pediatr 163:664~670
Minchiotti L / The Albumin Web site
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