title: Congenital hyperinsulinism in Chinese patients: 5-yr treatment outcome of 95 clinical cases with genetic analysis of 55 cases.
abstract: OBJECTIVE
  The aim of this study is to investigate the clinical features, therapeutic outcomes, and genetic mutations of congenital hyperinsulinism (CHI) in Chinese patients.
  
  
  METHODS
  The clinical features and therapeutic outcomes of 95 CHI cases were recorded, and genetic analyses were conducted to identify mutations in ABCC8 and KCNJ11 in 55 cases. Direct sequencing was carried out in 25 of the cases with ABCC8 and KCNJ11 mutations. Additionally, 16 samples with no mutations and the remaining 30 samples were sequenced using Ion Torrent platform.
  
  
  RESULTS
  Clinical misdiagnosis occurred in 36/95 (38%) of the cases. Most (82/95; 84%) of the patients were given diazoxide therapy combined with age-dependent frequent feeding, which was effective in 54/95 (66%) cases. The side effects of diazoxide included sodium and water retention, gastrointestinal reactions, polytrichia, and thrombocytopenia. Five patients were treated with octreotide for 1-4 months, of which 80% (4/5) showed a positive response. Non-surgical therapy was effective in 71/95 (75%) cases. Of the four children who received subtotal pancreatectomy, only one had a good outcome. The remission rate of hypoglycemia was 59% for children over 2-yr-old. The CHI-related gene mutation rate was 38% for potassium channel-related genes. Early onset of CHI and a lower diazoxide response rate were associated with potassium-ATP channel gene mutations.
  
  
  CONCLUSIONS
  Age-dependent frequent feeding is an acceptable therapy for CHI. Non-surgical therapy may be highly effective, in part, due to the low rate of potassium channel gene mutations. Surgical outcomes are unreliable without 18F-fluoro-L-DOPA positron emission tomography. Therefore, we do not recommend operation without definitive identification of the pathologic type.
authors: Department of Pediatric Endocrinology and Genetic Metabolism, Beijing Children's Hospital Affiliated with Capital Medical University, Beijing, China.
authors: Chunxiu
authors: C
authors: Gong
authors: Department of Pediatric Endocrinology and Genetic Metabolism, Beijing Children's Hospital Affiliated with Capital Medical University, Beijing, China.
authors: Shuyue
authors: S
authors: Huang
authors: Department of Pediatric Endocrinology and Genetic Metabolism, Beijing Children's Hospital Affiliated with Capital Medical University, Beijing, China.
authors: Chang
authors: C
authors: Su
authors: Department of Pediatrics, Beijing Children's Hospital Affiliated with Capital Medical University, Beijing, China.
authors: Zhan
authors: Z
authors: Qi
authors: Institute of Basic Medical Sciences, Peking Union Medical College, Beijing, China.
authors: Fang
authors: F
authors: Liu
authors: Department of Pediatric Endocrinology and Genetic Metabolism, Beijing Children's Hospital Affiliated with Capital Medical University, Beijing, China.
authors: Di
authors: D
authors: Wu
authors: Department of Pediatric Endocrinology and Genetic Metabolism, Beijing Children's Hospital Affiliated with Capital Medical University, Beijing, China.
authors: Bingyan
authors: B
authors: Cao
authors: Department of Pediatric Endocrinology and Genetic Metabolism, Beijing Children's Hospital Affiliated with Capital Medical University, Beijing, China.
authors: Yi
authors: Y
authors: Gu
authors: Department of Pediatric Endocrinology and Genetic Metabolism, Beijing Children's Hospital Affiliated with Capital Medical University, Beijing, China.
authors: Wenjin
authors: W
authors: Li
authors: Department of Pediatric Endocrinology and Genetic Metabolism, Beijing Children's Hospital Affiliated with Capital Medical University, Beijing, China.
authors: Xuejun
authors: X
authors: Liang
authors: Department of Pediatric Endocrinology and Genetic Metabolism, Beijing Children's Hospital Affiliated with Capital Medical University, Beijing, China.
authors: Min
authors: M
authors: Liu
mesh_terms: D002681:China / Q000453:epidemiology; D044903:Congenital Hyperinsulinism / Q000453:epidemiology / Q000235:genetics / Q000628:therapy*; D005260:Female; D005838:Genotype; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008137:Longitudinal Studies; D008297:Male; D010641:Phenotype; D024661:Potassium Channels, Inwardly Rectifying / Q000235:genetics; D064233:Sulfonylurea Receptors / Q000235:genetics; D016896:Treatment Outcome; D000099161:Kcnj11 Channel
chemical_list: D024661:Potassium Channels, Inwardly Rectifying; D064233:Sulfonylurea Receptors; D000099161:Kcnj11 Channel; C577507:ABCC8 protein, human
keywords: ABCC8; KCNJ11; SIADH (syndrome of inappropriate antidiuresis); congenital hyperinsulinism; diazoxide; octreotide; potassium channel; side effects