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本文引用的文献

1
Phenotypic Characterization of Congenital Hyperinsulinism Due to Novel Activating Glucokinase Mutations.新型葡萄糖激酶激活突变致先天性高胰岛素血症的表型特征。
Diabetes. 2023 Dec 1;72(12):1809-1819. doi: 10.2337/db23-0465.
2
Congenital hyperinsulinism: recent updates on molecular mechanisms, diagnosis and management.先天性高胰岛素血症：分子机制、诊断和治疗的最新进展。
J Pediatr Endocrinol Metab. 2021 Sep 21;35(3):279-296. doi: 10.1515/jpem-2021-0369. Print 2022 Mar 28.
3
Update of variants identified in the pancreatic β-cell K channel genes KCNJ11 and ABCC8 in individuals with congenital hyperinsulinism and diabetes.更新在先天性高胰岛素血症和糖尿病个体的胰腺β细胞 K 通道基因 KCNJ11 和 ABCC8 中鉴定的变异体。
Hum Mutat. 2020 May;41(5):884-905. doi: 10.1002/humu.23995. Epub 2020 Feb 17.
4
Therapies and outcomes of congenital hyperinsulinism-induced hypoglycaemia.先天性高胰岛素血症所致低血糖的治疗方法和结果。
Diabet Med. 2019 Jan;36(1):9-21. doi: 10.1111/dme.13823. Epub 2018 Oct 8.
5
Heterogeneity in phenotype of hyperinsulinism caused by activating glucokinase mutations: a novel mutation and its functional characterization.由激活型葡萄糖激酶突变引起的高胰岛素血症表型异质性：一种新突变及其功能特征
Clin Endocrinol (Oxf). 2017 Jun;86(6):778-783. doi: 10.1111/cen.13318. Epub 2017 Mar 27.
6
Perspective on the Genetics and Diagnosis of Congenital Hyperinsulinism Disorders.先天性高胰岛素血症疾病的遗传学与诊断展望
J Clin Endocrinol Metab. 2016 Mar;101(3):815-26. doi: 10.1210/jc.2015-3651. Epub 2016 Feb 23.
7
Familial adult onset hyperinsulinism due to an activating glucokinase mutation: implications for pharmacological glucokinase activation.由激活型葡萄糖激酶突变导致的家族性成人起病型高胰岛素血症：对药物性激活葡萄糖激酶的启示
Clin Endocrinol (Oxf). 2014 Dec;81(6):855-61. doi: 10.1111/cen.12517. Epub 2014 Jul 2.
8
Discovery of a novel site regulating glucokinase activity following characterization of a new mutation causing hyperinsulinemic hypoglycemia in humans.在鉴定了一种导致人类高胰岛素血症性低血糖的新突变后，发现了一个调节葡萄糖激酶活性的新位点。
J Biol Chem. 2011 May 27;286(21):19118-26. doi: 10.1074/jbc.M111.223362. Epub 2011 Mar 29.
9
Opposite clinical phenotypes of glucokinase disease: Description of a novel activating mutation and contiguous inactivating mutations in human glucokinase (GCK) gene.葡萄糖激酶疾病的相反临床表型：人类葡萄糖激酶（GCK）基因中一种新型激活突变和相邻失活突变的描述
Mol Endocrinol. 2009 Dec;23(12):1983-9. doi: 10.1210/me.2009-0094. Epub 2009 Nov 2.
10
Update on mutations in glucokinase (GCK), which cause maturity-onset diabetes of the young, permanent neonatal diabetes, and hyperinsulinemic hypoglycemia.葡萄糖激酶（GCK）基因突变的最新研究进展，这些突变可导致青年发病的成年型糖尿病、新生儿糖尿病和高胰岛素血症性低血糖。
Hum Mutat. 2009 Nov;30(11):1512-26. doi: 10.1002/humu.21110.

人类基因突变导致的轻度先天性高胰岛素血症

Mild Congenital Hyperinsulinism Caused by Mutation in Human Gene.

作者信息

Sozaeva Leila Salikhovna, Ismailova Sabina Kalandarovna, Chernyak Irina Yurievna, Popov Sergey Vladimirovich, Zakharova Victoriya Vitalievna, Chugunov Igor Sergeevich

机构信息

Endocrinology Research Centre, Moscow, 117036, Russian Federation.

Children's Regional Clinical Hospital, Krasnodar, 350007, Russian Federation.

出版信息

JCEM Case Rep. 2024 Dec 4;2(12):luae226. doi: 10.1210/jcemcr/luae226. eCollection 2024 Dec.

DOI:10.1210/jcemcr/luae226
PMID:39659388
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11630036/
Abstract

Congenital hyperinsulinism (CHI) is a rare hereditary disease characterized by the development of hypoglycemia in both infants and adult patients. CHI may be induced by activating mutations in the () gene, which encodes the human glucokinase enzyme. This form of the disease is characterized by considerable phenotypic heterogeneity and may vary in severity of its course. We present a familial case report of mild CHI caused by a novel variant, c.212T > C (p.Val71Ala), in the gene in a 41-year-old mother and a 15-year-old daughter. The clinical picture of hypoglycemia in the patients was not pronounced, which makes this clinical case remarkable. Moreover, a variant of uncertain clinical significance, с.1903G > A (p.Ala635Thr), in the gene was detected, which may also have contributed to the course of the disease in these patients.

摘要

先天性高胰岛素血症（CHI）是一种罕见的遗传性疾病，其特征是婴儿和成年患者均会出现低血糖。CHI可能由（）基因的激活突变引起，该基因编码人类葡萄糖激酶。这种疾病形式具有相当大的表型异质性，病程严重程度可能有所不同。我们报告了一例家族性病例，一名41岁母亲和一名15岁女儿因基因中的一个新变体c.212T > C（p.Val71Ala）导致轻度CHI。患者低血糖的临床表现并不明显，这使得该临床病例引人注目。此外，在该基因中检测到一个临床意义不确定的变体с.1903G > A（p.Ala635Thr），它也可能对这些患者的病程产生了影响。