Ben Ameur S, Aloulou H, Jlidi N, Kamoun F, Chabchoub I, Di Filippo M, Sfaihi L, Hachicha M
Hedi Chaker Hospital, Department of pediatrics, 3029 Sfax, Tunisia; Faculty of medicine, Sfax, Tunisia.
Hedi Chaker Hospital, Department of pediatrics, 3029 Sfax, Tunisia; Faculty of medicine, Sfax, Tunisia.
Arch Pediatr. 2016 Jul;23(7):735-7. doi: 10.1016/j.arcped.2016.04.010. Epub 2016 Jun 3.
Chylomicron retention disease (CRD) is a rare autosomal recessive hereditary hypocholesterolemic disorder. The disease most frequently presents in infants and is characterized by a lipid malabsorption syndrome with steatorrhea, chronic diarrhea, and growth retardation. The disease is characterized by normal fasting serum triglyceride levels combined with the absence of apolipoprotein (apo) B48 and chylomicrons after a fat load. In this report, we describe the clinical, laboratory, and histological data as well as the molecular DNA analysis of a 12-month-old girl from Tunisia with CRD. The patient was treated with a low-fat diet and fat-soluble vitamin supplementation resulting in significant improvement.
乳糜微粒滞留病（CRD）是一种罕见的常染色体隐性遗传性低胆固醇血症疾病。该病最常出现在婴儿期，其特征为脂质吸收不良综合征，伴有脂肪泻、慢性腹泻和生长发育迟缓。该病的特点是空腹血清甘油三酯水平正常，且脂肪负荷后无载脂蛋白（apo）B48和乳糜微粒。在本报告中，我们描述了一名来自突尼斯的12个月大患有CRD女童的临床、实验室和组织学数据以及分子DNA分析。该患者接受了低脂饮食和脂溶性维生素补充治疗，病情得到显著改善。
