Suhaimi Hussain, Nurshafinaz Salmah Mohd Fezal, Sarah Flanagan
{"title":"对长效生长抑素有良好反应的局灶性二氮唑抗性先天性高胰岛素血症。","authors":"Suhaimi Hussain, Nurshafinaz Salmah Mohd Fezal, Sarah Flanagan","doi":"10.15605/jafes.039.02.03","DOIUrl":null,"url":null,"abstract":"<p><p>A four-year-old female who was born term via spontaneous vaginal delivery (SVD) with a birth weight of 3.4 kg had an onset of persistent hypoglycaemia at the 6<sup>th</sup> hour of life. She was diagnosed with congenital hyperinsulinism based on high glucose load, negative ketone and a good response to glucagon. Genetic workup revealed the presence of ATP Binding Cassette Subfamily C Member 8 (ABCC8 genes) mutation which indicated a focal form of congenital hyperinsulinism. She was resistant to the standard dose of oral diazoxide but responded to subcutaneous somatostatin. At the age of 3 years and 6 months, multiple daily injections of somatostatin were replaced with a long-acting monthly somatostatin analogue. With the present treatment, she had better glycaemic control, normal growth and was able to stop tube feeding.</p>","PeriodicalId":41792,"journal":{"name":"Journal of the ASEAN Federation of Endocrine Societies","volume":"39 2","pages":"108-111"},"PeriodicalIF":0.6000,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11604472/pdf/","citationCount":"0","resultStr":"{\"title\":\"A Focal Form of Diazoxide-resistant Congenital Hyperinsulinism with Good Response to Long-acting Somatostatin.\",\"authors\":\"Suhaimi Hussain, Nurshafinaz Salmah Mohd Fezal, Sarah Flanagan\",\"doi\":\"10.15605/jafes.039.02.03\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><p>A four-year-old female who was born term via spontaneous vaginal delivery (SVD) with a birth weight of 3.4 kg had an onset of persistent hypoglycaemia at the 6<sup>th</sup> hour of life. She was diagnosed with congenital hyperinsulinism based on high glucose load, negative ketone and a good response to glucagon. Genetic workup revealed the presence of ATP Binding Cassette Subfamily C Member 8 (ABCC8 genes) mutation which indicated a focal form of congenital hyperinsulinism. She was resistant to the standard dose of oral diazoxide but responded to subcutaneous somatostatin. At the age of 3 years and 6 months, multiple daily injections of somatostatin were replaced with a long-acting monthly somatostatin analogue. With the present treatment, she had better glycaemic control, normal growth and was able to stop tube feeding.</p>\",\"PeriodicalId\":41792,\"journal\":{\"name\":\"Journal of the ASEAN Federation of Endocrine Societies\",\"volume\":\"39 2\",\"pages\":\"108-111\"},\"PeriodicalIF\":0.6000,\"publicationDate\":\"2024-01-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11604472/pdf/\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Journal of the ASEAN Federation of Endocrine Societies\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.15605/jafes.039.02.03\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"2024/7/31 0:00:00\",\"PubModel\":\"Epub\",\"JCR\":\"Q4\",\"JCRName\":\"ENDOCRINOLOGY & METABOLISM\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Journal of the ASEAN Federation of Endocrine Societies","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.15605/jafes.039.02.03","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2024/7/31 0:00:00","PubModel":"Epub","JCR":"Q4","JCRName":"ENDOCRINOLOGY & METABOLISM","Score":null,"Total":0}
A Focal Form of Diazoxide-resistant Congenital Hyperinsulinism with Good Response to Long-acting Somatostatin.
A four-year-old female who was born term via spontaneous vaginal delivery (SVD) with a birth weight of 3.4 kg had an onset of persistent hypoglycaemia at the 6th hour of life. She was diagnosed with congenital hyperinsulinism based on high glucose load, negative ketone and a good response to glucagon. Genetic workup revealed the presence of ATP Binding Cassette Subfamily C Member 8 (ABCC8 genes) mutation which indicated a focal form of congenital hyperinsulinism. She was resistant to the standard dose of oral diazoxide but responded to subcutaneous somatostatin. At the age of 3 years and 6 months, multiple daily injections of somatostatin were replaced with a long-acting monthly somatostatin analogue. With the present treatment, she had better glycaemic control, normal growth and was able to stop tube feeding.
期刊介绍：
The Journal of the ASEAN Federation of Endocrine Societies (JAFES) is an OPEN ACCESS, internationally peer-reviewed, English language, medical and health science journal that is published in print two times a year by the ASEAN Federation of Endocrine Societies. It shall serve as the endocrine window between the ASEAN region and the world, featuring original papers and publishing key findings from specialists and experts of endocrinology.
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