| A Case of Familial Hypercholesterolemia with Diabetes Mellitus |
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Yong Kyu Sohn, Kee Young Chang, Kee Hyoung Lee, Young Chang Tockgo |
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Department of Pediatric Medicine, College of Medicine, Korea University, Seoul, Korea |
| 당뇨병을 동반한 가족성 고콜레스테롤혈증 1례 |
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손용규, 장기영, 이기형, 독고영창 |
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고려대학교 의과대학 소아과학교실 |
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| Abstract |
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Familial Hypercholesterolemia is the most common hyperlipoproteinemia during the childhood, which
occurs from the mutation of genes that regulates low-density lipoproteins(LDL), and is classified into
two types, the homozygote presented abnormal genes from both parents and the heterozygote
presented an abnormal gene from each parent. Type IIa familial hypercholesterolemia is characterized
by, especially, increased level of LDL which is common type and normal level of high-density lipoproteins.
The clinical signs are arterosclerosis, xanthoma of the Achilles tendons and the arcus
cornea. The treatments are dietary and drug therapy. This report is a case of familial hypercholesterolemia
diagnosed as type IIa hyperlipoproteinnemia with Insulin Dependent Diabetes Mellitus. |
| Key Words:
Familial hypercholesterolemia, Diabetes mellitus |
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