Kose Engin, Armagan Coskun, Teke Kısa Pelin, Onay Huseyin, Arslan Nur
Dokuz Eylul University, Department of Pediatrics, Izmir, Turkey.
Dokuz Eylul University, Department of Pediatric Metabolism and Nutrition, Izmir, Turkey.
J Pediatr Endocrinol Metab. 2018 Nov 27;31(11):1289-1293. doi: 10.1515/jpem-2018-0280.
Background Familial apo C-II deficiency is a rare hereditary disorder frequently caused by lipoprotein lipase (LPL) and APOC2 gene mutations. To date, less than 30 patients with familial apo C-II deficiency with 24 different mutations have been identified in the literature. Here, we describe two familial chylomicronemia syndrome cases in infants with two novel mutations of the APOC2 gene. Case presentation Case 1, a 46-day-old female, was admitted to our hospital for evaluation due to the lipemic appearance of the blood sample. A clinical examination revealed hepatomegaly and lipemia retinalis. Triglyceride level of 6295 mg/dL was decreased with a strict low-fat diet, medium-chain triglycerides (MCT) oil-rich formula and omega-3 fatty acid supplementation. Due to low adherence to the diet, TG elevation was detected and fresh frozen plasma (10 mL/kg/day) was administered for 2 days. A novel homozygous p.Q25X (c.73C>T) mutation in the APOC2 gene was detected. Case 2, a 10-month-old female patient, referred to our center for the differential diagnosis of hyperlipidemia as her blood sample could not be assessed due to its lipemic appearance. Laboratory examinations showed a TG level of 4520 mg/dL which was reduced with a low-fat diet, MCT oil-rich formula and omega-3 fatty acid supplementation. Hepatosteatosis and splenomegaly were determined using abdominal sonography. A novel homozygous IVS2+6T>G (c.55+6T>G) mutation in the APOC2 gene was identified. Conclusions We describe two novel homozygous mutations (p.Q25X [c.73C>T] and IVS2+6T>G [c.55+6T>G]) in the APOC2 gene in infants with hyperchylomicronemia. To the best of our knowledge, Case 1 is the youngest patient with familial apo C-II deficiency in the literature to date.
家族性载脂蛋白C-II缺乏症是一种罕见的遗传性疾病，常由脂蛋白脂肪酶（LPL）和APOC2基因突变引起。迄今为止，文献中已鉴定出不到30例患有家族性载脂蛋白C-II缺乏症且有24种不同突变的患者。在此，我们描述了两例患有APOC2基因两种新突变的婴儿家族性乳糜微粒血症综合征病例。
病例1，一名46日龄女性，因血样呈脂血外观入院接受评估。临床检查发现肝肿大和视网膜脂血症。通过严格的低脂饮食、富含中链甘油三酯（MCT）油的配方奶粉和补充ω-3脂肪酸，甘油三酯水平从6295mg/dL下降。由于饮食依从性差，检测到甘油三酯升高，并给予新鲜冷冻血浆（10mL/kg/天）治疗2天。检测到APOC2基因一个新的纯合p.Q25X（c.73C>T）突变。病例2，一名10个月大的女性患者，因血样呈脂血外观无法评估而转诊至本中心进行高脂血症的鉴别诊断。实验室检查显示甘油三酯水平为4520mg/dL，通过低脂饮食、富含MCT油的配方奶粉和补充ω-3脂肪酸而降低。腹部超声检查发现肝脂肪变性和脾肿大。鉴定出APOC2基因一个新的纯合IVS2+6T>G（c.55+6T>G）突变。
我们描述了两例患有高乳糜微粒血症的婴儿APOC2基因新的纯合突变（p.Q25X [c.73C>T]和IVS2+6T>G [c.55+6T>G]）。据我们所知，病例1是迄今为止文献中最年轻的家族性载脂蛋白C-II缺乏症患者。
