title: Long-term follow-up and mutation analysis of 27 chinese cases of congenital hyperinsulinism.
abstract: OBJECTIVE
  Long-term clinical follow-up and mutation analysis were performed in 27 Chinese congenital hyperinsulinism patients.
  
  
  METHODS
  27 hypoglycemia patients were diagnosed with CHI within 2 years of age. The long-term clinical outcome was analyzed and mutation analysis of 5 hyperinsulinism candidate genes was performed.
  
  
  RESULTS
  The median onset age of hypoglycemia in the patients was 60 days; 11 patients showed hypoglycemic symptoms in the neonatal stage, and hypoglycemia in most of the patients was first expressed as a seizure. Blood was collected during the hypoglycemic episode and insulin levels were significantly elevated. ABCC8, KCNJ11, GCK, HNF4a and GLUD1 genes were screened for mutation analysis. 14 mutations in ABCC8 or KCNJ11 genes in 12 cases were identified (44%). 57% (8/14) of the mutations have not been reported before. 83% (10/12) of the patients have a monoallelic mutation. 58% of these 12 patients were predicted to be focal. 73% of the patients without KATP channel mutations were sensitive to diazoxide. 26 patients were followed over a period of 1-13 years. 50% of all 27 patients showed brain impairment.
  
  
  CONCLUSIONS
  Chinese CHI patients are similar to other ethnic groups in terms of prevalence of KATP-HI, onset age, severity of hypoglycemia and treatment. Mutations in ABCC8 and KCNJ11 are common causes of CHI in Chinese patients. Mutation analysis showed more novel and monoallele mutations in KATP genes.
authors.affiliation: Department of Endocrinology, Genetics and Metabolism, Beijing Children's Hospital, Capital Medical University, Beijing, China.
authors.forename: Chang
authors.initials: C
authors.lastname: Su
authors.forename: Chunxiu
authors.initials: C
authors.lastname: Gong
authors.forename: Paul
authors.initials: P
authors.lastname: Sanger
authors.forename: Wenjing
authors.initials: W
authors.lastname: Li
authors.forename: Di
authors.initials: D
authors.lastname: Wu
authors.forename: Yi
authors.initials: Y
authors.lastname: Gu
authors.forename: Bingyan
authors.initials: B
authors.lastname: Cao
mesh_terms: D000293:Adolescent; D000483:Alleles; D044466:Asian People; D002648:Child; D002675:Child, Preschool; D002681:China; D044903:Congenital Hyperinsulinism / Q000235:genetics* / Q000378:metabolism; D005260:Female; D005500:Follow-Up Studies; D006801:Humans; D007223:Infant; D008297:Male; D009154:Mutation; D024661:Potassium Channels, Inwardly Rectifying / Q000235:genetics* / Q000378:metabolism; D064233:Sulfonylurea Receptors / Q000235:genetics* / Q000378:metabolism; D000099161:Kcnj11 Channel
chemical_list: D024661:Potassium Channels, Inwardly Rectifying; D064233:Sulfonylurea Receptors; D000099161:Kcnj11 Channel; C577507:ABCC8 protein, human