PDF(Pubmed)
Abstract：
Transient neonatal diabetes mellitus (TNDM) is a genetically heterogeneous form of neonatal diabetes characterized by hyperglycemia that remits during infancy with a tendency to recur in later life. This case report presents the history of a male infant with transient neonatal diabetes mellitus. The patient was treated with a continuous subcutaneous insulin infusion (CSII) and a continuous glucose monitoring (CGM) system until the age of 2 months, when the normoglycemia connected with a withdrawal of treatment was noted. The genetic test results excluded the majority of known mutations related to TNDM. This case report focuses on various genetic mutations and the clinical features connected with them that cause TNDM and highlights the difficulties in the diagnostic and therapeutic processes of this disease. CSII and CGM systems seem to be a safe and effective treatment option in TNDM and may be used in the therapy.
摘要：
短暂性新生儿糖尿病（TNDM）是新生儿糖尿病的遗传异质性形式，其特征是高血糖症在婴儿期缓解，并在以后的生活中复发。该病例报告介绍了患有短暂性新生儿糖尿病的男性婴儿的病史。患者接受连续皮下胰岛素输注（CSII）和连续血糖监测（CGM）系统治疗，直至2个月大，当注意到与停药有关的血糖正常时。遗传测试结果排除了大多数与TNDM相关的已知突变。该病例报告重点介绍了导致TNDM的各种基因突变及其临床特征，并强调了该疾病的诊断和治疗过程中的困难。CSII和CGM系统似乎是TNDM的安全有效的治疗选择，可用于治疗。
