title: Permanent neonatal diabetes mellitus in China.
abstract: BACKGROUND
  Permanent neonatal diabetes mellitus (PNDM) is a rare disease, which is defined as the onset of diabetes before the age of 6 months with persistence through life. Infants with KCNJ11 or ABCC8 genetic mutations may respond to oral sulfonylurea therapy. Currently, there are limited studies about the genetic analysis and long-term follow-up of PNDM.
  
  
  METHODS
  We report four cases of PNDM. None of the infants or their parents had INS, KCNJ11, or ABCC8 genetic mutations. One infant underwent continuous subcutaneous insulin infusion (CSII) and the other infants underwent multiple injections of insulin (MII). In these infants, PNDM persisted from 35 months to 60 months of follow-up. Three infants maintained fairly stable blood sugar levels, and one infant had poor sugar control.
  
  
  CONCLUSIONS
  We suggest that all of the infants with PNDM should undergo genetic evaluation. For infants without KCNJ11 and ABCC8 genetic mutations, oral sulfonylurea should not be considered as treatment. CSII is a useful method for overcoming the difficulties of diabetes, and it may also improve the quality of life of both infants and their parents.
authors: Ke
authors: K
authors: Huang
authors: Li
authors: L
authors: Liang
authors: Department of Endocrinology, Children's Hospital of Zhejiang University School of Medicine, 57 Zhugan Xiang, Hangzhou 310003, China. fjf68@qq.com.
authors: Jun-Feng
authors: JF
authors: Fu
authors: Guan-Pin
authors: GP
authors: Dong
mesh_terms: D002675:Child, Preschool; D002681:China; D003920:Diabetes Mellitus / Q000175:diagnosis* / Q000235:genetics; D005260:Female; D005819:Genetic Markers; D005820:Genetic Testing; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D009154:Mutation
chemical_list: D005819:Genetic Markers