ABCC8基因突变导致的新生儿低血糖症 - Suppr

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超能文献

Neonatal Hypoglycaemia due to ABCC8 Gene Mutation.

作者信息

Kumar Ashok, Pramanik Subhodip, Ghosh Sujoy, Saha Bijan

机构信息

Consultant Endocrinologist, KHIMS Hospitals, Khammam, Telangana, India.

Consultant Endocrinologist, Neotia Getwel Hospital, Siliguri, India.

出版信息

Indian J Endocrinol Metab. 2020 Nov-Dec;24(6):555-558. doi: 10.4103/ijem.IJEM_780_20. Epub 2021 Jan 12.

DOI:10.4103/ijem.IJEM_780_20

PMID:33643876

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC7906097/

Abstract

摘要

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b5a0/7906097/423431811d1d/IJEM-24-555-g001.jpg

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引用本文的文献

Correspondence to 'Neonatal hypoglycaemia due to ABCC8 gene mutation'.致函《ABCC8基因突变导致新生儿低血糖》。

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本文引用的文献

Clinical presentation and management of children with diffuse and focal hyperinsulinism: a review of 223 cases.儿童弥漫性和局灶性高胰岛素血症的临床表现和治疗：223 例病例回顾。

J Clin Endocrinol Metab. 2013 Nov;98(11):E1786-9. doi: 10.1210/jc.2013-2094. Epub 2013 Sep 20.

Congenital hyperinsulinism: current trends in diagnosis and therapy.先天性高胰岛素血症：诊断与治疗的现状趋势。

Orphanet J Rare Dis. 2011 Oct 3;6:63. doi: 10.1186/1750-1172-6-63.

Clinical characteristics and biochemical mechanisms of congenital hyperinsulinism associated with dominant KATP channel mutations.与显性KATP通道突变相关的先天性高胰岛素血症的临床特征及生化机制

J Clin Invest. 2008 Aug;118(8):2877-86. doi: 10.1172/JCI35414.

Recent advances in hyperinsulinemic hypoglycemia of infancy.婴儿期高胰岛素性低血糖症的最新进展。

Acta Paediatr. 2006 Oct;95(10):1157-64. doi: 10.1080/08035250600640414.

Hyperinsulinism in infancy: from basic science to clinical disease.婴儿期高胰岛素血症：从基础科学到临床疾病

Physiol Rev. 2004 Jan;84(1):239-75. doi: 10.1152/physrev.00022.2003.

Controversies regarding definition of neonatal hypoglycemia: suggested operational thresholds.关于新生儿低血糖定义的争议：建议的操作阈值

Pediatrics. 2000 May;105(5):1141-5. doi: 10.1542/peds.105.5.1141.

Genetics of neonatal hyperinsulinism.新生儿高胰岛素血症的遗传学

Arch Dis Child Fetal Neonatal Ed. 2000 Mar;82(2):F79-86. doi: 10.1136/fn.82.2.f79.

A nonsense mutation in the inward rectifier potassium channel gene, Kir6.2, is associated with familial hyperinsulinism.内向整流钾通道基因Kir6.2中的无义突变与家族性高胰岛素血症相关。

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Neonatal hypoglycemia 30 years later: does it injure the brain? Historical summary and present challenges.30年后的新生儿低血糖：它会损伤大脑吗？历史总结与当前挑战

Acta Paediatr Jpn. 1997 Apr;39 Suppl 1:S7-11.

Mutation of the pancreatic islet inward rectifier Kir6.2 also leads to familial persistent hyperinsulinemic hypoglycemia of infancy.胰岛内向整流钾通道蛋白6.2（Kir6.2）的突变也会导致家族性婴儿持续性高胰岛素血症性低血糖症。

Hum Mol Genet. 1996 Nov;5(11):1809-12. doi: 10.1093/hmg/5.11.1809.

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