中国当代儿科杂志2023，Vol.25Issue(12)：1293-1298,6.DOI:10.7499/j.issn.1008-8830.2307113
新生儿期起病伴血性腹水的Ⅰ型高脂蛋白血症1例
A case of neonatal-onset type Ⅰ hyperlipoproteinemia with bloody ascites
陈园园 1胡黎园 1张可 1张雪萍 1曹云 1杨琳 2吴冰冰 3周文浩 1王瑾1
作者信息
- 1. 国家儿童医学中心/复旦大学附属儿科医院新生儿科,上海 201102
- 2. 国家儿童医学中心/复旦大学附属儿科医院内分泌遗传代谢科,上海 201102
- 3. 国家儿童医学中心/复旦大学附属儿科医院儿科研究所,上海 201102
- 折叠
摘要
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引用本文复制引用
陈园园,胡黎园,张可,张雪萍,曹云,杨琳,吴冰冰,周文浩,王瑾..新生儿期起病伴血性腹水的Ⅰ型高脂蛋白血症1例[J].中国当代儿科杂志,2023,25(12):1293-1298,6.
