title: Clinical, biochemical and molecular analysis of two infants with familial chylomicronemia syndrome.
abstract: Familial chylomicronemia syndrome (FCS) is a rare autosomal recessive disease due mainly to inherited deficiencies in the proteins or enzymes involved in the clearance of triglycerides from circulation. It usually happens in late childhood and adolescence, which can have serious consequences if misdiagnosed or untreated. In the present study, we investigated two Chinese male babies (A and B), 30d and 48d in age, respectively, who have milky plasma. Clinical, biochemical, and radiological assessments were performed, while samples from the patients were referred for molecular diagnosis, including genetic testing and subsequent analysis of related genes. The fasting serum lipids of the two patients showed extreme lipid abnormalities. Through a low-lipid formula diet including skimmed milk and dietary advice, their plasma lipid levels were significantly lower and more stable at the time of hospital discharge. The genetic testing revealed compound heterozygote mutations in the lipoprotein lipase (LPL) gene for patient A and two known compound heterozygote LPL gene mutations for the patient B. FCS is the most dramatic example of severe hypertriglyceridemia. Early diagnosis and timely dietary intervention is very important for affected children.
authors.affiliation: Xin Hua Hospital, Shanghai Jiao Tong University School of Medicine, 1665 Kongjiang Road, Shanghai, 200092, China.
authors.forename: Yonghong
authors.initials: Y
authors.lastname: Zhang
authors.affiliation: BGI-Shenzhen, Room 404 buiding No.11,Beishan industrial area, Beishan Road, Yantian District, Shenzhen, 518083, China.
authors.forename: Jing
authors.initials: J
authors.lastname: Zhou
authors.affiliation: BGI-Shenzhen, Room 404 buiding No.11,Beishan industrial area, Beishan Road, Yantian District, Shenzhen, 518083, China.
authors.forename: Wenxin
authors.initials: W
authors.lastname: Zheng
authors.affiliation: BGI-Shenzhen, Room 404 buiding No.11,Beishan industrial area, Beishan Road, Yantian District, Shenzhen, 518083, China.
authors.forename: Zhangzhang
authors.initials: Z
authors.lastname: Lan
authors.affiliation: BGI-Shenzhen, Room 404 buiding No.11,Beishan industrial area, Beishan Road, Yantian District, Shenzhen, 518083, China.
authors.forename: Zhiwei
authors.initials: Z
authors.lastname: Huang
authors.affiliation: Xin Hua Hospital, Shanghai Jiao Tong University School of Medicine, 1665 Kongjiang Road, Shanghai, 200092, China.
authors.forename: Qingnan
authors.initials: Q
authors.lastname: Yang
authors.affiliation: Xin Hua Hospital, Shanghai Jiao Tong University School of Medicine, 1665 Kongjiang Road, Shanghai, 200092, China.
authors.forename: Chengbo
authors.initials: C
authors.lastname: Liu
authors.affiliation: BGI-Shenzhen, Room 404 buiding No.11,Beishan industrial area, Beishan Road, Yantian District, Shenzhen, 518083, China. Gaorui@genomics.cn.
authors.forename: Rui
authors.initials: R
authors.lastname: Gao
authors.affiliation: Xin Hua Hospital, Shanghai Jiao Tong University School of Medicine, 1665 Kongjiang Road, Shanghai, 200092, China. zhangyongjun@sjtu.edu.cn.|MOE and Shanghai Key Laboratory of Children's Environmental Health, Shanghai, China. zhangyongjun@sjtu.edu.cn.
authors.forename: Yongjun
authors.initials: Y
authors.lastname: Zhang
mesh_terms: D004032:Diet; D005260:Female; D006801:Humans; D008072:Hyperlipoproteinemia Type I / Q000175:diagnosis / Q000178:diet therapy* / Q000209:etiology* / Q000235:genetics; D007223:Infant; D007231:Infant, Newborn; D008055:Lipids / Q000097:blood; D008071:Lipoprotein Lipase / Q000235:genetics; D008297:Male; D009154:Mutation; D014280:Triglycerides / Q000008:administration & dosage
chemical_list: D008055:Lipids; D014280:Triglycerides; C548261:LPL protein, human; D008071:Lipoprotein Lipase
keywords: Familial chylomicronemia syndrome; Hypertriglyceridemia; Infancy