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患有GCK-MODY的女性所生育的GCK-MODY患儿的新生儿结局与糖尿病病程

Neonatal outcome and diabetes course in children with GCK-MODY born from women with GCK-MODY.

作者信息

Kopacz-Petranyuk Katarzyna, Brandt-Varma Agnieszka, Buraczewska Marta, Wołoszyn-Durkiewicz Anna, Peczyńska Jagoda, Preis Krzysztof, Jarosz-Chobot Przemysława, Szadkowska Agnieszka, Młynarski Wojciech, Myśliwiec Małgorzata

机构信息

Department of Obstetrics, Medical University of Gdansk, Poland.

Clinic of Pediatrics, Diabetology and Endocrinology, Medical University of Gdansk, Poland.

出版信息

Pediatr Endocrinol Diabetes Metab. 2018;24(4):167-173. doi: 10.5114/pedm.2018.83362.

Abstract

INTRODUCTION

Gestational diabetes is one of the most common medical disorders and may cause numerous of maternal and foetal complications, such as: preterm births, congenital defects, hypertrophic cardiomyopathy, metabolic changes, and macrosomia in neonates. One of the types of diabetes that may clinically manifest in pregnancy is GCK-MODY, caused by mutations in the glucokinase (GCK) gene.

AIM OF THE STUDY

The aim of the study was to assess the impact of diabetes during pregnancy in women with GCK-MODY on their children's health outcome and to determine the clinical and biochemical characteristics of children delivered by patients with GCK-MODY.

MATERIAL AND METHODS

Study was multicentre, involving 50 children from paediatric diabetology departments in Gdansk, Katowice, Bialystok, and Lodz. The risk of GCK-MODY was evaluated on the basis of the medical history of the patient, the clinical course of the disease, and laboratory tests performed during diagnostic procedures. Data concerning family history, mothers' health status, course of pregnancy, and perinatal period was collected.

RESULTS

The study showed that among children with glucokinase mutation, born by mothers affected with GCK-MODY, 62% received 10 points in Apgar score in the first minute of life, whereas 92% (n = 46) obtained 10 points in Apgar score in the fifth minute of life. The average age of diagnosis of GCK-MODY in children was 8.25 ±4.76 years, and the average HbA1c during diagnosis was 6.43 ±0.71%. Statis-tically significant difference between the absence of macrosomia (birth weight > 91st percentile) in children with GCK-MODY diabetes in comparison to the general paediatric population (p = 0.0229) was observed.

CONCLUSION

According to the presented study, possible consequences of GCK-MODY during pregnancy on foetal development are generally less severe and may differ from those characteristic for other types of diabetes. Children born by mothers with diabetes should be followed up regarding glucose disorders. Further investigation of particular phenotypes of GCK-MODY, depending on the type of inherited mu-tation in mothers and their children, is required.

摘要

引言

妊娠期糖尿病是最常见的医学病症之一,可能导致众多母婴并发症,例如:早产、先天性缺陷、肥厚型心肌病、代谢变化以及新生儿巨大儿。妊娠期间可能临床显现的糖尿病类型之一是葡萄糖激酶 - 青少年发病的成年型糖尿病(GCK - MODY),由葡萄糖激酶(GCK)基因突变引起。

研究目的

本研究旨在评估GCK - MODY女性孕期糖尿病对其子女健康结局的影响,并确定GCK - MODY患者所分娩儿童的临床和生化特征。

材料与方法

本研究为多中心研究,涉及来自格但斯克、卡托维兹、比亚韦斯托克和罗兹儿科糖尿病科的50名儿童。根据患者病史、疾病临床过程以及诊断程序中进行的实验室检查评估GCK - MODY风险。收集有关家族史、母亲健康状况、妊娠过程和围产期的数据。

结果

研究表明,母亲患有GCK - MODY所生的携带葡萄糖激酶突变的儿童中,62%在出生后第一分钟阿氏评分得10分,而92%(n = 46)在出生后第五分钟阿氏评分得10分。儿童GCK - MODY的平均诊断年龄为8.25±4.76岁,诊断期间平均糖化血红蛋白(HbA1c)为6.43±0.71%。观察到GCK - MODY糖尿病儿童与普通儿科人群相比,无巨大儿(出生体重>第91百分位数)的差异具有统计学意义(p = 0.0229)。

结论

根据本研究,孕期GCK - MODY对胎儿发育的可能后果通常不太严重,可能与其他类型糖尿病的特征不同。患有糖尿病母亲所生的儿童应就葡萄糖紊乱进行随访。需要根据母亲及其子女遗传突变类型对GCK - MODY的特定表型进行进一步研究。

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