Niculae Alexandru-Ștefan, Bolba Claudia, Grama Alina, Mariş Alexandra, Bodea Laura, Căinap Simona, Mititelu Alexandra, Fufezan Otilia, Pop Tudor Lucian
2nd Pediatric Discipline, Department of Mother and Child, Iuliu Hatieganu University of Medicine and Pharmacy Cluj-Napoca, 400177 Cluj-Napoca, Romania.
2nd Pediatric Clinic, Emergency Clinical Hospital for Children Cluj-Napoca, 400177 Cluj-Napoca, Romania.
Pediatr Rep. 2023 Oct 16;15(4):608-616. doi: 10.3390/pediatric15040056.
Wolcott-Rallison syndrome is a rare cause of permanent neonatal diabetes mellitus caused by mutations in the eukaryotic translation initiation factor 2 alpha kinase 3 gene (EIF2AK3). Individuals affected by this disorder have severe hyperglycemia, pancreatic failure, and bone abnormalities and are prone to severe and life-threatening episodes of liver failure. This report illustrates the case of a 2-month-old infant with extreme hyperglycemia and severe diabetic ketoacidosis. Acute management was focused on correcting severe acidosis. Further management aimed to obtain stable blood glucose levels, balancing the patient's need for comfort and lack of distress with the clinicians' need for adequate information regarding the patient's glycemic control. Genetic testing of the patient and his parents confirmed the diagnosis. The follow-up for 18 months after diagnosis is detailed, illustrating both the therapeutic success of subcutaneous insulin therapy and the ongoing complications that patients with Wolcott-Rallison syndrome are subject to.
沃尔科特-拉利森综合征是一种由真核生物翻译起始因子2α激酶3基因（EIF2AK3）突变引起的永久性新生儿糖尿病的罕见病因。受该疾病影响的个体有严重高血糖、胰腺功能衰竭和骨骼异常，并且容易发生严重且危及生命的肝功能衰竭发作。本报告阐述了一名患有极度高血糖和严重糖尿病酮症酸中毒的2个月大婴儿的病例。急性治疗重点在于纠正严重酸中毒。进一步治疗旨在获得稳定的血糖水平，在满足患者舒适需求且无痛苦与临床医生获取有关患者血糖控制的充分信息的需求之间取得平衡。对该患者及其父母的基因检测确诊了病情。详细介绍了确诊后18个月的随访情况，说明了皮下胰岛素治疗的治疗成功以及沃尔科特-拉利森综合征患者所面临的持续并发症。
