Analysis on the pathogenic genes of 60 Chinese children with congenital hyperinsulinemia
This study aims to summarize and analyze the clinical manifestations, genetic characteristics, treatment modalities and long-term prognosis of congenital hyperinsulinemia (CHI) in Chinese children. Sixty children with CHI, who were treated at Beijing Children’s Hospital from January 2014 to August 2...
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Bioscientifica
2018-11-01
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doaj-01b8be2b85734ac8b29d43de402463632020-11-25T00:52:57ZengBioscientificaEndocrine Connections2049-36142049-36142018-11-0171212511261https://doi.org/10.1530/EC-18-0240Analysis on the pathogenic genes of 60 Chinese children with congenital hyperinsulinemiaZi-Di Xu0Wei Zhang1Min Liu2Huan-Min Wang3Pei-Pei Hui4Xue-Jun Liang5Jie Yan6Yu-Jun Wu7Yan-Mei Sang8Cheng Zhu9Gui-Chen Ni10Department of Pediatric Endocrinology, Genetic and Metabolism, Beijing Children’s Hospital, Capital Medical University, National Center for Children’s Health, Beijing, ChinaDepartment of Children Health Care, Xiamen Maternal and Child Health Hospital, Xiamen, ChinaDepartment of Pediatric Endocrinology, Genetic and Metabolism, Beijing Children’s Hospital, Capital Medical University, National Center for Children’s Health, Beijing, ChinaDepartment of Surgical Oncology, Beijing Children’s Hospital, Capital Medical University, National Center for Children’s Health, Beijing, ChinaDepartment of Pediatric Endocrinology, Genetic and Metabolism, Beijing Children’s Hospital, Capital Medical University, National Center for Children’s Health, Beijing, ChinaDepartment of Pediatric Endocrinology, Genetic and Metabolism, Beijing Children’s Hospital, Capital Medical University, National Center for Children’s Health, Beijing, ChinaDepartment of Pediatric Endocrinology, Genetic and Metabolism, Beijing Children’s Hospital, Capital Medical University, National Center for Children’s Health, Beijing, ChinaDepartment of Pediatric Endocrinology, Genetic and Metabolism, Beijing Children’s Hospital, Capital Medical University, National Center for Children’s Health, Beijing, ChinaDepartment of Pediatric Endocrinology, Genetic and Metabolism, Beijing Children’s Hospital, Capital Medical University, National Center for Children’s Health, Beijing, ChinaDepartment of Pediatric Endocrinology, Genetic and Metabolism, Beijing Children’s Hospital, Capital Medical University, National Center for Children’s Health, Beijing, ChinaDepartment of Pediatric Endocrinology, Genetic and Metabolism, Beijing Children’s Hospital, Capital Medical University, National Center for Children’s Health, Beijing, ChinaThis study aims to summarize and analyze the clinical manifestations, genetic characteristics, treatment modalities and long-term prognosis of congenital hyperinsulinemia (CHI) in Chinese children. Sixty children with CHI, who were treated at Beijing Children’s Hospital from January 2014 to August 2017, and their families, were selected as subjects. The CHI-related causative genes in children were sequenced and analyzed using second-generation sequencing technology. Furthermore, the genetic pathogenesis and clinical characteristics of Chinese children with CHI were explored. Among the 60 CHI children, 27 children (27/60, 45%) carried known CHI-related gene mutations: 16 children (26.7%) carried ABCC8 gene mutations, seven children (11.7%) carried GLUD1 gene mutations, one child carried GCK gene mutations, two children carried HNF4α gene mutations and one child carried HADH gene mutations. In these 60 patients, eight patients underwent 18F-L-DOPA PET scan for the pancreas, and five children were found to be focal type. The treatment of diazoxide was ineffective in these five patients, and hypoglycemia could be controlled after receiving partial pancreatectomy. In conclusion, ABCC8 gene mutation is the most common cause of CHI in Chinese children. The early genetic analysis of children’s families has an important guiding significance for treatment planning and prognosis assessment.https://ec.bioscientifica.com/view/journals/ec/7/12/EC-18-0240.xmlcongenital hyperinsulinemiaKATP channelsgene mutationsdiazoxide |
collection |
DOAJ |
language |
English |
format |
Article |
sources |
DOAJ |
author |
Zi-Di Xu Wei Zhang Min Liu Huan-Min Wang Pei-Pei Hui Xue-Jun Liang Jie Yan Yu-Jun Wu Yan-Mei Sang Cheng Zhu Gui-Chen Ni |
spellingShingle |
Zi-Di Xu Wei Zhang Min Liu Huan-Min Wang Pei-Pei Hui Xue-Jun Liang Jie Yan Yu-Jun Wu Yan-Mei Sang Cheng Zhu Gui-Chen Ni Analysis on the pathogenic genes of 60 Chinese children with congenital hyperinsulinemia Endocrine Connections congenital hyperinsulinemia KATP channels gene mutations diazoxide |
author_facet |
Zi-Di Xu Wei Zhang Min Liu Huan-Min Wang Pei-Pei Hui Xue-Jun Liang Jie Yan Yu-Jun Wu Yan-Mei Sang Cheng Zhu Gui-Chen Ni |
author_sort |
Zi-Di Xu |
title |
Analysis on the pathogenic genes of 60 Chinese children with congenital hyperinsulinemia |
title_short |
Analysis on the pathogenic genes of 60 Chinese children with congenital hyperinsulinemia |
title_full |
Analysis on the pathogenic genes of 60 Chinese children with congenital hyperinsulinemia |
title_fullStr |
Analysis on the pathogenic genes of 60 Chinese children with congenital hyperinsulinemia |
title_full_unstemmed |
Analysis on the pathogenic genes of 60 Chinese children with congenital hyperinsulinemia |
title_sort |
analysis on the pathogenic genes of 60 chinese children with congenital hyperinsulinemia |
publisher |
Bioscientifica |
series |
Endocrine Connections |
issn |
2049-3614 2049-3614 |
publishDate |
2018-11-01 |
description |
This study aims to summarize and analyze the clinical manifestations, genetic characteristics, treatment modalities and long-term prognosis of congenital hyperinsulinemia (CHI) in Chinese children. Sixty children with CHI, who were treated at Beijing Children’s Hospital from January 2014 to August 2017, and their families, were selected as subjects. The CHI-related causative genes in children were sequenced and analyzed using second-generation sequencing technology. Furthermore, the genetic pathogenesis and clinical characteristics of Chinese children with CHI were explored. Among the 60 CHI children, 27 children (27/60, 45%) carried known CHI-related gene mutations: 16 children (26.7%) carried ABCC8 gene mutations, seven children (11.7%) carried GLUD1 gene mutations, one child carried GCK gene mutations, two children carried HNF4α gene mutations and one child carried HADH gene mutations. In these 60 patients, eight patients underwent 18F-L-DOPA PET scan for the pancreas, and five children were found to be focal type. The treatment of diazoxide was ineffective in these five patients, and hypoglycemia could be controlled after receiving partial pancreatectomy. In conclusion, ABCC8 gene mutation is the most common cause of CHI in Chinese children. The early genetic analysis of children’s families has an important guiding significance for treatment planning and prognosis assessment. |
topic |
congenital hyperinsulinemia KATP channels gene mutations diazoxide |
url |
https://ec.bioscientifica.com/view/journals/ec/7/12/EC-18-0240.xml |
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