与CREB3L3基因突变有关的高甘油三酯血症诱发的妊娠急性胰腺炎

IF 3.6 3区医学 Q2 PHARMACOLOGY & PHARMACY

Journal of clinical lipidology Pub Date : 2024-10-02 DOI:10.1016/j.jacl.2024.10.001

Chen Gurevitz, Jeffrey I Mechanick, Ron Do, Robert S Rosenson

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引用次数: 0

摘要

一名 40 岁女性在妊娠 35 周时出现腹痛和超过 5000 毫克/分升的高甘油三酯血症。经过实验室检查和影像学检查，她被诊断为与高甘油三酯血症相关的妊娠期急性胰腺炎。她接受了 NPO、胰岛素静脉注射和外周肠外营养治疗，但病情因先兆子痫而进一步恶化，她在妊娠 36 周时进行了引产。基因检测显示，她的 CREB3L3 基因为杂合变异，容易导致严重的高甘油三酯血症。产后调整生活方式，包括低脂饮食和日常锻炼，大大改善了她的血脂状况。

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Hypertriglyceridemia-induced acute pancreatitis in pregnancy associated with CREB3L3 mutation.

A 40-year-old woman at 35 weeks of gestation presented with abdominal pain and hypertriglyceridemia of above 5000 mg/dL. Following lab tests and imaging studies, she was diagnosed with hypertriglyceridemia-related acute pancreatitis in pregnancy. She was managed with NPO, IV insulin, and peripheral parenteral nutrition, but her condition further complicated with preeclampsia, and she was induced and delivered at 36 weeks of gestation. Genetic testing revealed a heterozygous variant in the CREB3L3 gene predisposing to severe hypertriglyceridemia. Postpartum lifestyle modifications, including a low-fat diet and routine exercise, significantly improved her lipid profile.

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来源期刊

Journal of clinical lipidology 医学-药学

CiteScore

7.00

自引率

6.80%

发文量

209

审稿时长

49 days

期刊介绍： Because the scope of clinical lipidology is broad, the topics addressed by the Journal are equally diverse. Typical articles explore lipidology as it is practiced in the treatment setting, recent developments in pharmacological research, reports of treatment and trials, case studies, the impact of lifestyle modification, and similar academic material of interest to the practitioner. While preference is given to material of immediate practical concern, the science that underpins lipidology is forwarded by expert contributors so that evidence-based approaches to reducing cardiovascular and coronary heart disease can be made immediately available to our readers. Sections of the Journal will address pioneering studies and the clinicians who conduct them, case studies, ethical standards and conduct, professional guidance such as ATP and NCEP, editorial commentary, letters from readers, National Lipid Association (NLA) news and upcoming event information, as well as abstracts from the NLA annual scientific sessions and the scientific forums held by its chapters, when appropriate.