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학술연구/단체지원/교육 등 연구자 활동을 지속하도록 DBpia가 지원하고 있어요.
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논문 기본 정보
- 자료유형
- 학술저널
- 저자정보
- 저널정보
- 대한소아내분비학회 Annals of Pediatirc Endocrinology & Metabolism Annals of Pediatirc Endocrinology & Metabolism 제22권 제1호
- 발행연도
- 2017.1
- 수록면
- 68 - 71 (4page)
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Chylomicronemia is a severe type of hypertriglyceridemia characterized by chylomicron accumulation that arises from a genetic defect in intravascular lipolysis. It requires urgent and proper management, because serious cases can be accompanied by pancreatic necrosis or persistent multiple organ failure. We present the case of a 1-month-old infant with chylomicronemia treated by plasmapheresis. His chylomicronemia was discovered incidentally when lactescent plasma was noticed during routine blood sampling during a hospital admission for fever and irritability. Laboratory investigation revealed marked triglyceridemia (>5,000 mg/dL) with high chylomicron levels. We therefore decided to perform a therapeutic plasmapheresis to prevent acute pancreatitis. Sequence analysis revealed a homozygous novel mutation in exon 4 of GPIHBP1: c.476delG (p.Gly159Alafs). Glycosylphosphatidylinositol-anchored high density lipoproteinbinding protein 1 (GPIHBP1) stabilizes the binding of chylomicrons near lipoprotein lipase and supports lipolysis. Mutations of GPIHBP1, the most recently discovered gene, can lead to severe hyperlipidemia and are known to make up only 2% of the monogenic mutations associated with chylomicronemia. The patient maintains mild hypertriglyceridemia without rebound after single plasmapheresis and maintenance fibrate medication so far. Here, we report an infant with chylomicronemia due to GPIHBP1 mutation, successfully treated by plasmapheresis.
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등록된 정보가 없습니다.
참고문헌 (20)
참고문헌 신청
Adeyo O / 2012 / Glycosylphosphatidylinositolanchored high-density lipoprotein-binding protein 1 and the intravascular processing of triglyceride-rich lipoproteins / J Intern
Ahmad Z / 2014 / Familial chylomicronemia syndrome and response to medium-chain triglyceride therapy in an infant with novel mutations in GPIHBP1 / J Clin Lipidol 8 : 635 ~
Basel-Vanagaite L / 2012 / Transient infantile hypertriglyceridemia, fatty liver, and hepatic fibrosis caused by mutated GPD1, encoding glycerol-3-phosphate dehydrogenase 1
Becker M / 1992 / Long-term treatment of severe familial hypercholesterolemia in children: effect of sitosterol and bezafibrate / Pediatrics 89 : 138 ~ 142
Beigneux AP / 2007 / Glycosylphosphatidylinositol-anchored highdensity lipoprotein-binding protein 1 plays a critical role in the lipolytic processing of chylomicrons / Cell
Ahmad Z / 2014 / Familial chylomicronemia syndrome and response to medium-chain triglyceride therapy in an infant with novel mutations in GPIHBP1 / J Clin Lipidol 8 : 635 ~
Basel-Vanagaite L / 2012 / Transient infantile hypertriglyceridemia, fatty liver, and hepatic fibrosis caused by mutated GPD1, encoding glycerol-3-phosphate dehydrogenase 1
Becker M / 1992 / Long-term treatment of severe familial hypercholesterolemia in children: effect of sitosterol and bezafibrate / Pediatrics 89 : 138 ~ 142
Beigneux AP / 2007 / Glycosylphosphatidylinositol-anchored highdensity lipoprotein-binding protein 1 plays a critical role in the lipolytic processing of chylomicrons / Cell
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