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儿童囊性纤维化合并 GCK-MODY:治疗方案的疑问。

GCK-MODY in a child with cystic fibrosis: the doubt of the treatment plan.

机构信息

Department of Human Pathology in Adult and Developmental Age "Gaetano Barresi", University of Messina, Messina, Italy.

Department of Human Pathology in Adult and Developmental Age "Gaetano Barresi", Pediatric Gastroenterology and Cystic Fibrosis Unit, University of Messina, Messina, Italy.

出版信息

J Pediatr Endocrinol Metab. 2020 Jul 13;33(10):1359-1362. doi: 10.1515/jpem-2020-0093.

DOI:10.1515/jpem-2020-0093
PMID:32658865
Abstract

Objectives The diagnosis of cystic fibrosis related diabetes (CFRD) is not often easy as glucose homeostasis may be influenced by various disease-related conditions such as enteral continuous drip feeding, frequent acute illness, use of systemic corticosteroids and other concomitant medications. Other forms of diabetes should be considered in the diagnostic work-up, particularly in the first decade of life. Case presentation We hereby present the case of a cystic fibrosis 6-year-old female child diagnosed with glucokinase-maturity onset of diabetes of the young (GCK-MODY). The choice of treatment plan was doubtful since GCK-MODY does not usually require insulin treatment, but hyperglycemia could pose a threat to the respiratory tract. After intensive glucose monitoring, we decided to defer pharmacological treatment based on acceptable daily glycemic control. To date, no worsening in her respiratory function has been revealed. Conclusions Recognition of non-CFRD forms of diabetes is fundamental to plan the most suitable treatment and follow-up.

摘要

目的

囊性纤维化相关糖尿病(CFRD)的诊断并不总是那么容易,因为葡萄糖稳态可能受到多种与疾病相关的情况的影响,如肠内持续滴注喂养、频繁急性疾病、全身皮质类固醇和其他伴随药物的使用。在诊断过程中应考虑其他类型的糖尿病,特别是在生命的第一个十年。

病例介绍

我们在此介绍了一例囊性纤维化 6 岁女性儿童,被诊断为葡萄糖激酶-年轻发病型糖尿病(GCK-MODY)。由于 GCK-MODY 通常不需要胰岛素治疗,且高血糖可能对呼吸道构成威胁,因此治疗方案的选择存在疑问。在进行密集的血糖监测后,我们决定根据可接受的日常血糖控制来推迟药物治疗。迄今为止,她的呼吸功能没有恶化。

结论

认识到非 CFRD 形式的糖尿病对于制定最合适的治疗和随访方案至关重要。

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引用本文的文献

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Clinical and genetic features of maturity-onset diabetes of the young in pediatric patients: a 12-year monocentric experience.儿科患者青少年发病的成年型糖尿病的临床和遗传特征:一项为期12年的单中心经验。
Diabetol Metab Syndr. 2021 Sep 8;13(1):96. doi: 10.1186/s13098-021-00716-6.
2
Cystic Fibrosis-Related Diabetes (CFRD): Overview of Associated Genetic Factors.囊性纤维化相关糖尿病(CFRD):相关遗传因素概述
Diagnostics (Basel). 2021 Mar 22;11(3):572. doi: 10.3390/diagnostics11030572.
3
Monogenic Diabetes in a Child with Cystic Fibrosis: A Case Report and Review of the Literature.
一名患有囊性纤维化儿童的单基因糖尿病:病例报告及文献综述
J Endocr Soc. 2020 Nov 2;5(1):bvaa165. doi: 10.1210/jendso/bvaa165. eCollection 2021 Jan 1.