Alarcan Hugo, Guillon Antoine, Maillot François, Collin-Chavagnac Delphine, Christian Andres, Blasco Hélène, Piver Eric
Ann Biol Clin (Paris). 2022 Jun 30;80(3):259-267. doi: 10.1684/abc.2022.1737.
A 16-year-old child with no medical history was admitted to the hospital emergency for abdominal pain associated with polyuria-polydipsia and weight loss (baseline BMI: 25,4 kg/m2). Diagnosis of severe ketoacidosis was quickly raised regarding major metabolic acidosis, high ketonemia and glycemia. Acute pancreatitis was then diagnosed according to a plasmatic lipase more than tenfold normal values associated with a severe hypertriglyceridemia superior to 100 mmol/L. The triad composed of diabetic ketoacidosis-acute pancreatitis-hypertriglyceridemia is rarely found in childhood and can have deleterious consequences. The etiology of this disease is still enigmatic, as one can be both, cause and consequence of the other. Genetic investigation of familial chylomicronemia legitimated to invalidate the dyslipidemia etiology of this event. On the other hand, the association of a genetic variant of lipoprotein lipase leading to a decrease in its activity, with the insulinopenia of type 1 diabetes most certainly triggered this episode of hypertriglyceridemia.
一名无病史的16岁儿童因腹痛伴多尿-多饮及体重减轻（基线BMI：25.4kg/m²）入住医院急诊科。鉴于存在严重代谢性酸中毒、高酮血症和高血糖，迅速诊断为严重酮症酸中毒。随后根据血浆脂肪酶超过正常数值十倍且伴有严重高甘油三酯血症（高于100mmol/L）诊断为急性胰腺炎。糖尿病酮症酸中毒-急性胰腺炎-高甘油三酯血症三联征在儿童期很少见，且可能产生有害后果。该疾病的病因仍然成谜，因为一种情况可能既是另一种情况的原因，也是其结果。对家族性乳糜微粒血症的基因研究证实该事件的血脂异常病因不成立。另一方面，脂蛋白脂肪酶的一种导致其活性降低的基因变异与1型糖尿病的胰岛素缺乏肯定共同引发了这一高甘油三酯血症发作。
