Monogenic diabetes in children and young adults: Challenges for researcher, clinician and patient.
Monogenic diabetes in children and young adults: Challenges for researcher, clinician and patient.
复制标题
DOI：
10.1007/s11154-006-9014-0
复制
发表时间：
2006-09
影响因子：
8.2
通讯作者：
Slingerland, Annabelle S.
中科院分区：
文献类型：
--
作者：
Slingerland, Annabelle S.
单基因糖尿病由单个基因中的一个或多个突变引起，因此可能是罕见的，但具有很大的影响，导致非常年轻的糖尿病。它给研究人员阐明糖尿病的病因和其他器官系统的相关特征带来了巨大的挑战，给临床医生指定了一种诊断，从而改善遗传咨询、预测临床病程和治疗变化，以及给患者带来了巨大的挑战。导致别无选择地停止胰岛素和注射（葡萄糖激酶突变），胰岛素注射剂被片剂（例如，HNFα中的低剂量或钾通道缺陷-Kir6.2和SUR 1中的高剂量）或除胰岛素外的片剂（例如，胰岛素抵抗综合征中的二甲双胍）取代。基因检测需要指导，以测试什么基因，特别是鉴于资源有限。如果糖尿病患者的特征与其当前诊断不一致（未指明的新生儿糖尿病、1型或2型糖尿病），并且具有单基因糖尿病特定亚型的临床特征（新生儿糖尿病、家族性糖尿病、轻度高血糖症、综合征），则应考虑单基因糖尿病。通过患者和家庭的临床和生理特征以及拟议突变改变临床护理的可能性给出指导。在这篇文章中，我的目的是提供有关胰岛素合成，分泌和抵抗的基因和突变的见解，并通过显示每个特定诊断的临床和生理特征和测试以及治疗机会，为基因检测提供指导。
Monogenic diabetes results from one or more mutations in a single gene which might hence be rare but has great impact leading to diabetes at a very young age. It has resulted in great challenges for researchers elucidating the aetiology of diabetes and related features in other organ systems, for clinicians specifying a diagnosis that leads to improved genetic counselling, predicting of clinical course and changes in treatment, and for patients to altered treatment that has lead to coming off insulin and injections with no alternative (Glucokinase mutations), insulin injections being replaced by tablets (e.g. low dose in HNFα or high dose in potassium channel defects -Kir6.2 and SUR1) or with tablets in addition to insulin (e.g. metformin in insulin resistant syndromes). Genetic testing requires guidance to test for what gene especially given limited resources. Monogenic diabetes should be considered in any diabetic patient who has features inconsistent with their current diagnosis (unspecified neonatal diabetes, type 1 or type 2 diabetes) and clinical features of a specific subtype of monogenic diabetes (neonatal diabetes, familial diabetes, mild hyperglycaemia, syndromes). Guidance is given by clinical and physiological features in patient and family and the likelihood of the proposed mutation altering clinical care. In this article, I aimed to provide insight in the genes and mutations involved in insulin synthesis, secretion, and resistance, and to provide guidance for genetic testing by showing the clinical and physiological features and tests for each specified diagnosis as well as the opportunities for treatment.
登录
查看更多内容
影响因子：
9.8
作者：
Hardy, C;Khanim, F;Barrett, T
通讯作者：
Barrett, T
影响因子：
30.8
作者：
Inoue, H;Tanizawa, Y;Permutt, MA
通讯作者：
Permutt, MA
影响因子：
39.2
作者：
Bellanné-Chantelot, C;Chauveau, D;Timsit, J
通讯作者：
Timsit, J
影响因子：
8.2
作者：
Kristinsson, SY;Thorolfsdottir, ET;Arngrimsson, R
通讯作者：
Arngrimsson, R
影响因子：
8.2
作者：
Iafusco, D;Stazi, MA;Prisco, F
通讯作者：
Prisco, F