Hassan Doha, Allen David B, Chen Melinda
Division of Pediatric Endocrinology and Diabetes, Department of Pediatrics, University of Wisconsin, Madison, WI 53792, USA.
JCEM Case Rep. 2024 Oct 16;2(10):luae180. doi: 10.1210/jcemcr/luae180. eCollection 2024 Oct.
Transient neonatal diabetes mellitus (TNDM) due to 6q duplication usually presents in the first 4 months of life, resolves before 18 months of life, and recurs in adolescence or adulthood. Insulin is the first-line treatment for chromosome 6-related neonatal diabetes in infancy. While there is no ideal treatment for patients with relapsed TNDM, residual β-cell function after remission of neonatal diabetes indicates a potential role for insulin secretagogues. Patients with 6q24 duplication have been successfully transitioned from insulin to sulfonylureas (SUs) in adolescence. We present the first report to our knowledge of TNDM secondary to a rare 6q23.3 duplication for which reemergence of diabetes was successfully transitioned from insulin to SU treatment. The successful transition to SU improved glycemic control, cost-effectiveness, and overall quality of life, while decreasing occurrence of hypoglycemia.
由6号染色体重复导致的短暂性新生儿糖尿病（TNDM）通常在出生后的前4个月出现，在18个月前缓解，并在青春期或成年期复发。胰岛素是婴儿期6号染色体相关新生儿糖尿病的一线治疗方法。虽然对于复发的TNDM患者没有理想的治疗方法，但新生儿糖尿病缓解后的残余β细胞功能表明胰岛素促分泌剂具有潜在作用。6q24重复的患者在青春期已成功从胰岛素转换为磺脲类药物（SUs）治疗。据我们所知，我们首次报告了一例继发于罕见的6q23.3重复的TNDM，其糖尿病复发后成功地从胰岛素治疗转换为SU治疗。成功转换为SU治疗改善了血糖控制、成本效益和整体生活质量，同时减少了低血糖的发生。
