Nocoń-Bohusz Julita, Wikiera Beata, Basiak Aleksander, Śmigiel Robert, Noczyńska Anna
Department of Endocrinology and Diabetology for Children and Adolescents, Wroclaw Medical University.
Department of Genetics, Wroclaw Medical University.
Pediatr Endocrinol Diabetes Metab. 2016 Feb 18;21(2):89-92. doi: 10.18544/PEDM-21.02.0029.
Severe hypertriglyceridemia is a condition associated with extremely high triglycerides (TG) plasma concentrations exceeding 1000mg/dl. This condition may result in mutations in genes encoding lipoprotein lipase (LPL), apolipoprotein C2 (APOC2) and apolipoprotein A5 (APOA5) characterized by an autosomal recessive inheritance pattern.
A case report of a patient in which clinical picture of type 1 diabetes mellitus (T1DM) was accompanied by diabetic ketoacidosis (DKA) and severe hypertriglyceridemia.
A 2.5-year-old boy was admitted to the hospital with ketoacidosis (pH - 7.0, BE - 20mmol/l, HCO3 10mmol/l), glucose level of 850mg%, hyponatremia (Na 100mmol/l) and hyperlipidemia (TG 13493 mg/dl, TC 734 mg/dl). The administered treatment resulted in nearly normal glycemic values and lipid disturbances normalization. This child was diagnosed with a heterozygous mutation of the LPL gene. Currently with an intensive insulin therapy and correct metabolic control of type 1 diabetes mellitus (T1DM), this patient maintains a normal lipid profile.
In patient with T1DM the diagnosis of severe hypertriglyceridemia in the course of ketoacidosis should be based on careful interpretation of laboratory tests results. Moreover genetic tests of the patient and his/her immediate relatives blood samples should be performed.
严重高甘油三酯血症是一种与血浆甘油三酯（TG）浓度极高（超过1000mg/dl）相关的病症。这种病症可能由编码脂蛋白脂肪酶（LPL）、载脂蛋白C2（APOC2）和载脂蛋白A5（APOA5）的基因突变引起，其遗传模式为常染色体隐性遗传。
报告一例1型糖尿病（T1DM）患者伴有糖尿病酮症酸中毒（DKA）和严重高甘油三酯血症的病例。
一名2.5岁男孩因酮症酸中毒（pH - 7.0，碱剩余 - 20mmol/l，碳酸氢根10mmol/l）、血糖水平850mg%、低钠血症（钠100mmol/l）和高脂血症（TG 13493mg/dl，总胆固醇734mg/dl）入院。给予的治疗使血糖值接近正常，脂质紊乱得以恢复正常。该患儿被诊断为LPL基因杂合突变。目前，通过强化胰岛素治疗和对1型糖尿病（T1DM）进行正确的代谢控制，该患者维持了正常的血脂水平。
对于患有T1DM且在酮症酸中毒过程中出现严重高甘油三酯血症的患者，诊断应基于对实验室检查结果的仔细解读。此外，应对患者及其直系亲属的血样进行基因检测。
