Araujo M Beatriz, Eiberman Gabriel, Etcheverry Natalia, Pacheco Gabriela
Hospital de Pediatría S.A.M.I.C. "Prof. Dr. Juan P. Garrahan", Ciudad Autónoma de Buenos Aires, Argentina.
Hospital Nacional Posadas, El Palomar, Argentina.
Arch Argent Pediatr. 2022 Jun;120(3):e123-e127. doi: 10.5546/aap.2022.e123.
Familial chylomicronemia syndrome (FCS) is a rare autosomal recessive disease, prevalence 1:200,000 - 1:1,000,000, and is characterized by fasting chylomicrons and very high triglycerides > 880 mg/dl. LPL is the most frequently affected gene, then APOC2, GPIHBP1, APOA5, LMF1, all of them compromising the function of lipoproteinlipase. FCS commonly presents in childhood with recurrent abdominal pain, eruptive xanthomas, failure to thrive, pancreatitis, and sometimes asymptomatic. The conventional treatment is dietetic fat restriction. The clinical outcome of 20 pediatric patients with FCS recruited from 4 hospitals in Argentina is reported.
家族性乳糜微粒血症综合征（FCS）是一种罕见的常染色体隐性疾病，患病率为1:200,000 - 1:1,000,000，其特征为空腹时出现乳糜微粒且甘油三酯水平极高，超过880毫克/分升。脂蛋白脂肪酶（LPL）是最常受影响的基因，其次是载脂蛋白C2（APOC2）、糖基磷脂酰肌醇锚定高密度脂蛋白结合蛋白1（GPIHBP1）、载脂蛋白A5（APOA5）、脂酶成熟因子1（LMF1），所有这些基因都会损害脂蛋白脂肪酶的功能。FCS通常在儿童期出现，表现为反复腹痛、疹性黄瘤、生长发育不良、胰腺炎，有时也无症状。传统治疗方法是限制饮食中的脂肪。本文报告了从阿根廷4家医院招募的20例FCS儿科患者的临床结果。
