肝细胞核因子1β基因缺失所致青少年发病的成人型糖尿病5型一例报道并文献分析

Phenotype of a patient with maturity-onset diabetes of the young type 5 caused by deletion in hepatocyte nuclear 1β and literature review

报道1例肝细胞核因子1β(HNF1β)基因缺失所致的青少年发病的成人型糖尿病(MODY)5型。该病以早发糖尿病、胰岛素相关抗体检测阴性同时伴有肾脏、胰腺及生殖系统异常为特征,为常染色体显性单基因型糖尿病。临床医师应提高对此病的认识,早期识别、诊断、治疗,指导优化生育。