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[葡萄糖激酶基因修饰的成年型糖尿病中的体液反应标志物]

[Humoral response markers in GCK MODY].

作者信息

Skała-Zamorowska Eliza, Deja Grażyna, Borowiec Maciej, Fendler Wojciech, Małachowska Beata, Kamińska Halla, Wyka Krystyna, Młynarski Wojciech, Jarosz-Chobot Przemysława

机构信息

Department of Pediatrics, Endocrinology and Diabetes, Medical University of Silesia.

Department of Clinical Genetics, Medical University of Lodz.

出版信息

Pediatr Endocrinol Diabetes Metab. 2016;22(3). doi: 10.18544/PEDM-22.03.0056.

Abstract

BACKGROUND

The prevalence of antibodies to pancreatic islets in monogenic diabetes remains unknown and the incidence estimation is difficult as the occurrence of autoantibodies in patient is one of the well-known exclusion criteria for further genetic diagnostics. They has been found not only among patients with type 1 diabetes, but also in other types of diabetes: Type 2 diabetes, Latent Autoimmune Diabetes in Adults (LADA) (16) and monogenic diabetes (MD).

AIM

Immunological characteristic of GCK MODY patients.

METHODS

The study group included families of 27 adolescent patients with GCK MODY (39 parents and 19 siblings) monitored in the Department of Pediatrics, Endocrinology and Diabetes and in the Diabetes Clinic of John Paul II Upper Silesian Child Health Centre in Katowice in the years 2007-2012. All patients and family members with GCK MODY underwent a blood sample drawing for immunological (classic humoral response markers: ICA, GAD, IA-2, IAA) and biochemical diagnostics. Pediatric, diabetes and family medical history was collected from the subjects and parents.

RESULTS

Immunological diagnostics was performed in all patients except 1 (96.3%). Immunological diagnostics included 17 (89.5%) parents and 7 (87.5%) siblings with diagnosed GCK MODY. 8 (30.8%) adolescent patients with GCK MODY, 3 subjects (17.64%) among parents (with GCK MODY), as well as 2 subjects (28.57%) among siblings (with GCK MODY) showed a positive antibodies screen.

CONCLUSION

The results of our study in children with GCK MODY and their family members suggest that the occurrence of classic antibodies directed against pancreatic islets antigens is fairly common in patients with GCK MODY. Despite various observations and many legitimate discussions, it is difficult to clarify the pathogenesis of the occurrence of autoantibodies in monogenic diabetes.

摘要

背景

单基因糖尿病患者中胰岛抗体的患病率尚不清楚,由于患者自身抗体的出现是进一步进行基因诊断的众所周知的排除标准之一,因此发病率估计也很困难。这些抗体不仅在1型糖尿病患者中被发现,也在其他类型的糖尿病中被发现:2型糖尿病、成人隐匿性自身免疫性糖尿病(LADA)(16)和单基因糖尿病(MD)。

目的

GCK型青少年发病的成年型糖尿病(GCK MODY)患者的免疫学特征。

方法

研究组包括2007年至2012年期间在卡托维兹的约翰·保罗二世上西里西亚儿童健康中心儿科、内分泌与糖尿病科以及糖尿病诊所接受监测的27例GCK MODY青少年患者的家庭(39名父母和19名兄弟姐妹)。所有GCK MODY患者及其家庭成员均接受血液样本采集,以进行免疫学(经典体液反应标志物:胰岛细胞抗体(ICA)、谷氨酸脱羧酶抗体(GAD)、胰岛抗原2抗体(IA - 2)、胰岛素自身抗体(IAA))和生化诊断。从受试者及其父母处收集儿科、糖尿病和家族病史。

结果

除1例患者外,所有患者(96.3%)均进行了免疫学诊断。免疫学诊断包括17名(89.5%)已确诊GCK MODY的父母和7名(87.5%)已确诊GCK MODY的兄弟姐妹。8例(30.8%)GCK MODY青少年患者、3名父母(患有GCK MODY)中的受试者(17.64%)以及2名兄弟姐妹(患有GCK MODY)中的受试者(28.57%)抗体筛查呈阳性。

结论

我们对GCK MODY儿童及其家庭成员的研究结果表明,针对胰岛抗原的经典抗体在GCK MODY患者中相当常见。尽管有各种观察结果和许多合理的讨论,但单基因糖尿病中自身抗体出现的发病机制仍难以阐明。

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