A Chinese patient with recurrent pancreatitis during pregnancy induced by hypertriglyceridemia associated with compound heterozygosity (Glu242Lys and Leu252VaL) in the lipoprotein lipase gene
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- 作者：Ying Liu ; MD ; Yu Lun ; MD ; Wenshan Lv ; MD ; PhD ; Xu Hou ; MD ; PhD ; jacob72hou@yahoo.com" class="auth_mail" title="E-mail the corresponding author ; Yangang Wang ; MD ; PhD ; wangyangang1@126.com" class="auth_mail" title="E-mail the corresponding author
- 关键词：Lipoprotein lipase ; Mutation ; Compound heterozygosity ; Hypertriglyceridemia ; Acute pancreatitis
- 刊名：Journal of Clinical Lipidology
- 出版年：2016
- 出版时间：January-February 2016
- 年：2016
- 卷：10
- 期：1
- 页码：199-203.e1
- 全文大小：622 K
文摘
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Severe hyperlipidemia initially was discovered in pregnancy with pancreatitis.
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A pre-existing genetic defect compromising lipid metabolism was evaluated.
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The recurrent AP in the patient was attributable to a novel compound heterozygous mutations in LPL.
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The mutations are responsible for markedly reduced LPL activity in postheparin plasma.