Identification of First Case of Neonatal Diabetes in Singapore and Successful Conversion from Insulin to Sulphonylurea:

Proceedings of Singapore Healthcare

RashidaVasanwala¹ 

关键词: genetic analysis;    neonatal diabetes;    sulphonylurea;   

DOI  :  10.1177/201010581001900205

学科分类：医学（综合）

来源: Sage Journals

【 摘 要 】

Introduction:To date Neonatal Diabetes Mellitus (NDM) has not been reported in Singapore. Neonatal diabetes is a rare (1 in 100,00–300,000 live births) insulin-requiring form of diabetes with well defined subgroups, permanent neonatal diabetes (PND) and transient neonatal diabetes (TND), each accounting for approximately 50% of patients. Genotyping NDM identifies the exact unique molecular aetiology of very early onset insulin requiring diabetes and has the potential to dramatically alter the management of the patient, who would otherwise be insulin dependent for life.Method:We identified a child who presented at 3 and half months of age with diabetic ketoacidosis and determined the phenotypic and genotypic characteristics. Blood samples for molecular genetic analysis were sent to Royal Devon and Exeter Foundation Trust, UK. We determined her Continuous Glucose Monitoring profiles after initiation of sulphonylurea therapy.Results:The patient was diagnosed as a heterozygous for a missense mutation R201H, i...

【 授权许可】

CC BY