Akesson Lauren S, Burnett John R, Mehta Divyesh K, Martin Andrew C
Telethon Kids Institute, West Perth, Western Australia, Australia School of Paediatrics and Child Health, University of Western Australia, Crawley, Western Australia, Australia Department of General Paediatrics, Princess Margaret Hospital for Children, Subiaco, Western Australia, Australia.
Department of Clinical Biochemistry, PathWest Laboratory Medicine, Royal Perth and Fiona Stanley Hospital Network, Perth, Western Australia, Australia School of Medicine and Pharmacology, University of Western Australia, Crawley, Western Australia, Australia.
BMJ Case Rep. 2016 Jan 29;2016:bcr2015212587. doi: 10.1136/bcr-2015-212587.
Lipoprotein lipase (LPL), a member of the triglyceride lipase gene family, is synthesised by parenchymal cells of the heart, skeletal muscle and adipose tissues before being transported to luminal surfaces of vascular endothelial cells to exert its main physiological function to hydrolyse plasma lipoproteins. LPL deficiency is a rare autosomal recessive disorder, resulting in severe hypertriglyceridaemia from birth. The effect of marked hypertriglyceridaemia on the immune function in children has not been described. We present a case of a neonate with LPL deficiency and grossly elevated plasma triglyceride levels, presenting with recurrent and recalcitrant perianal abscesses suggestive of underlying immunodeficiency. With reduced levels of plasma triglycerides, the recurrent perianal infections resolved. This case report reviews evidence for potential deleterious effects of hypertriglyceridaemia on immune function, however, underlying mechanisms are poorly understood. Whether hypertriglyceridaemia contributes to immune dysfunction in this context is unknown. If there is a pathophysiological link, this may have implications for hypertriglyceridaemia management.
脂蛋白脂肪酶（LPL）是甘油三酯脂肪酶基因家族的成员之一，由心脏、骨骼肌和脂肪组织的实质细胞合成，然后被转运到血管内皮细胞的腔面，以发挥其水解血浆脂蛋白的主要生理功能。LPL缺乏症是一种罕见的常染色体隐性疾病，导致从出生起就出现严重的高甘油三酯血症。显著的高甘油三酯血症对儿童免疫功能的影响尚未见报道。我们报告一例患有LPL缺乏症且血浆甘油三酯水平显著升高的新生儿病例，该患儿反复出现难治性肛周脓肿，提示存在潜在的免疫缺陷。随着血浆甘油三酯水平降低，反复出现的肛周感染得以缓解。本病例报告回顾了高甘油三酯血症对免疫功能潜在有害影响的证据，然而，其潜在机制尚不清楚。在这种情况下，高甘油三酯血症是否导致免疫功能障碍尚不清楚。如果存在病理生理联系，这可能对高甘油三酯血症的管理产生影响。
