脂蛋白酶变异的两姐妹妊娠期发生高脂血症及胰腺炎

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perlipidemia and Pancreatitis during Pregnancy in Two Sisters with a Mutation in the Lipoprotein Lipase Gene 脂蛋白酶变异的两姐妹妊娠期发生高脂血症及胰腺炎
Leonard M. Keilson, MD, MPH; Calvin P.H. Vary, PhD; Dennis L. Sprecher, MD; and Roger Renfrew, MD

Objective: To explore genetic mechanisms for pregnancy-associated pancreatitis and hyperlipidemia in two sisters.
目的：探究妊娠相关性胰腺炎和高脂血症在两姐妹中的遗传机制

Design: Case history.
设计：病史

Setting: Tertiary care facility with outpatient follow-up.
背景：进行门诊病人随访

Patients: Two sisters with acute pancreatitis and the acute respiratory distress syndrome were admitted (patient 1) or transferred (patient 2) to an intensive care setting with severely elevated triglyceride levels. Patient 1 was in the last trimester of pregnancy; patient 2 was 1 month postpartum. Both patients were of French Canadian ancestry.
病人：伴有急性胰腺炎和急性呼吸窘迫综合征的两姐妹被收入院（病人1）或转入（病人2）重症护理病房处理严重升高的甘油三酯。病人1处于妊娠最后三个月，病人2为产后一月，两个病人均为法国加拿大血统。

Intervention: Acute treatment was directed at stabilizing both patients medically (with fat restriction) and one patient surgically (patient 2). Treatment with fat restriction, weight loss, and gemfibrozil was continued after hospitalization.
介入治疗：内科急诊治疗以稳定病人病情（脂肪限制）。其中一人(病人2)进行了手术治疗。入院后继续给予了脂肪限制，减肥及降脂药吉非贝齐的治疗，

Results: Through DNA sequencing, we detected a mutation at amino acid residue 188 of lipoprotein lipase (LPL), reflecting product from one allele of the LPL gene in which a glutamine residue was substituted for a glycine (gly188glu).
结果：通过DNA测序，我们发现在脂蛋白脂酶(LPL)的第188位氨基酸残基上的基因突变。即发现了LPL基因上的一个等位基因的产物，其中谷酰胺残基被甘氨酸取代。

Conclusion: LPL plays a key role in regulating triglyceride levels in pregnancy. Mutations of LPL may place the patient at risk for pancreatitis. This heterozygous LPL mutation, gly 188glu, is prevalent in certain ethnic groups and may be a common cause of pancreatitis associated with pregnancy.
结论：LPL在调节妊娠期甘油三酯水平起着很重要的作用，LPL的突变可以使病人有患胰腺炎的风险。杂合LPL突变，即gly突变为glu，在某些种群中很常见，可能是妊娠相关性胰腺炎的主要病因。

脂蛋白酶变异的两姐妹妊娠期发生高脂血症及胰腺炎
目的：探究妊娠相关性胰腺炎和高脂血症在两姐妹中的遗传机制
设计：病人病史
背景：并进行门诊病人随访
病人：伴有急性胰腺炎和急性呼吸窘迫综合征的两姐妹被收入院（病人1）或转入（病人2）重症护理病房处理严重升高的甘油三酯。病人1处于妊娠最后三个月，病人2为产后一月，两个病人均为法国加拿大血统。
治疗：内科急诊治疗以稳定病人病情（脂肪限制）。病人2进行了手术治疗。入院后继续给予了脂肪限制，减肥及降脂药吉非贝齐的治疗，
结果：通过DNA测序，我们发现在脂蛋白脂酶(LPL)的第188位氨基酸残基上的基因突变。即发现了LPL基因上的一个等位基因的产物，其中谷酰胺残基被甘氨酸取代。
结论：LPL在调节妊娠期甘油三酯水平起着很重要的作用，LPL的突变可以使病人有患胰腺炎的风险。杂合LPL突变，即gly突变为glu，在某些种群中很常见，可能是妊娠相关性胰腺炎的主要病因。