患儿，男，生后32 d，因便血2 d，发热1 d入院。入院后抽动静脉血进行检查，血液标本均呈粉色。血生化检查显示甘油三酯、总胆固醇水平升高。家系全基因组测序显示患儿为LPL基因复合杂合变异，变异分别来自父亲和母亲。患儿明确诊断为脂蛋白脂肪酶缺乏相关的高脂蛋白血症。因患儿有便血、发热、血性腹水等症状，考虑急性胰腺炎，予禁食、血浆置换、全血换血治疗。基因结果回报明确诊断后予低脂饮食，补充脂溶性维生素、微量元素等治疗，调整喂养方案，住院4周后病情好转出院。随访甘油三酯、总胆固醇下降。随访至1岁，患儿生长及精神运动发育均正常。该文重点介绍新生儿期起病伴有血性腹水可疑急性胰腺炎相关症状的家族性高脂蛋白血症的多学科诊疗。
Abstract
This report presents a case of a male infant, aged 32 days, who was admitted to the hospital due to 2 days of bloody stools and 1 day of fever. Upon admission, venous blood samples were collected, which appeared pink. Blood biochemistry tests revealed elevated levels of triglycerides and total cholesterol. The familial whole genome sequencing revealed a compound heterozygous variation in the LPL gene, with one variation inherited from the father and the other from the mother. The patient was diagnosed with lipoprotein lipase deficiency-related hyperlipoproteinemia. Acute symptoms including bloody stools, fever, and bloody ascites led to the consideration of acute pancreatitis, and the treatment involved fasting, plasma exchange, and whole blood exchange. Following the definitive diagnosis based on the genetic results, the patient was given a low-fat diet and received treatment with fat-soluble vitamins and trace elements, as well as adjustments to the feeding plan. After a 4-week hospitalization, the patient's condition improved and he was discharged. Follow-up showed a decrease in triglycerides and total cholesterol levels. At the age of 1 year, the patient's growth and psychomotor development were normal. This article emphasizes the multidisciplinary diagnosis and treatment of familial hyperlipoproteinemia presenting with symptoms suggestive of acute pancreatitis, including bloody ascites, in the neonatal period.
关键词
家族性高脂蛋白血症 /
脂蛋白脂肪酶缺乏 /
LPL基因 /
新生儿
Key words
Familial hyperlipoproteinemia /
Lipoprotein lipase deficiency /
LPL gene /
Neonate
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参考文献
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