Park Hyojung, Kim Min-Sun, Kim Jiyeon, Lee Sae-Mi, Cho Sung Yoon, Yoo Eun-Gyong, Jin Dong-Kyu
Department of Pediatrics, Seongnam Citizens Medical Center, Seongnam, Korea.
Department of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea.
Ann Pediatr Endocrinol Metab. 2022 Mar;27(1):73-77. doi: 10.6065/apem.2040250.125. Epub 2021 May 14.
Diabetic ketoacidosis (DKA) is a medically fatal condition in poorly controlled hyperglycemia or newly diagnosed diabetes mellitus. Severe hypertriglyceridemia (HTG) is an uncommon complication of DKA and can be associated with acute pancreatitis (AP). We present the clinical manifestations, laboratory findings, and management of AP associated with HTG in a 14-year-old girl with DKA. The patient, with a 7-year history of type 2 diabetes presented with epigastric pain, 1 month after stopping insulin injection. DKA, severe HTG, and AP were diagnosed based on the laboratory and imaging tests. She recovered from DKA after conventional treatment for DKA, and her triglyceride (TG) level was reduced from 10,867 mg/dL to the normal range after 7 days of admission without antilipid medication. Given that her C-peptide level was not too low and considering her negative diabetes-related antibodies and high TG level, targeted gene panel sequencing was performed on the genes associated with diabetes and HTG. We identified a heterozygous mutation, c.4607C>T (p. Ala1537Val), in ABCC8 related to maturityonset diabetes of the young (MODY) 12. To our knowledge, this is the first reported case of HTG-induced AP with DKA in a patient with MODY. In addition, we reviewed the literature for pediatric cases of HTG with DKA. In patients with DKA, timely awareness of severe HTG related to insulin deficiency is crucial for improving the consequences of AP. We recommend considering AP in all DKA patients presenting with severe HTG to ensure early and proper management.
糖尿病酮症酸中毒(DKA)是血糖控制不佳的高血糖症或新诊断糖尿病中的一种医学上致命的病症。严重高甘油三酯血症(HTG)是DKA的一种罕见并发症,可与急性胰腺炎(AP)相关。我们报告了一名患有DKA的14岁女孩中与HTG相关的AP的临床表现、实验室检查结果及治疗情况。该患者有2型糖尿病7年病史,在停止胰岛素注射1个月后出现上腹部疼痛。根据实验室和影像学检查诊断为DKA、严重HTG和AP。她在接受DKA常规治疗后从DKA中康复,入院7天后甘油三酯(TG)水平在未使用降脂药物的情况下降至正常范围。鉴于她的C肽水平并非过低,且考虑到她糖尿病相关抗体阴性及TG水平高,对与糖尿病和HTG相关的基因进行了靶向基因panel测序。我们在与青少年成年发病型糖尿病(MODY)12相关的ABCC8基因中鉴定出一个杂合突变,c.4607C>T(p.Ala1537Val)。据我们所知,这是首例报道的MODY患者中HTG诱发的AP合并DKA的病例。此外,我们回顾了有关HTG合并DKA的儿科病例的文献。在DKA患者中,及时认识到与胰岛素缺乏相关的严重HTG对于改善AP的后果至关重要。我们建议对所有出现严重HTG的DKA患者考虑AP,以确保早期和恰当的管理。