Wędrychowicz Anna, Tobór Ewa, Wilk Magdalena, Ziółkowska-Ledwith Ewa, Rams Anna, Wzorek Katarzyna, Sabal Barbara, Stelmach Małgorzata, Starzyk Jerzy B
Polish-American Pediatric Institute, Jagiellonian University Collegium Medicum, Department of Pediatric and Adolescent Endocrinology, Cracow, Poland.
J Clin Res Pediatr Endocrinol. 2017 Sep 1;9(3):246-252. doi: 10.4274/jcrpe.4461. Epub 2017 Jun 30.
The aim of the study was to evaluate the clinical phenotypes of glucokinase-maturity-onset diabetes of the young (GCK-MODY) pediatric patients from Southwest Poland and to search for phenotype-genotype correlations.
We conducted a retrospective analysis of data on 37 CGK-MODY patients consisting of 21 girls and 16 boys of ages 1.9-20.1 (mean 12.5±5.2) years, treated in our centre in the time period between 2002 and 2013.
GCK-MODY carriers were found in a frequency of 3% among 1043 diabetes mellitus (DM) patients and constituted the second most numerous group of DM patients, following type 1 DM, in our centre. The mean age of GCK-MODY diagnosis was 10.4±4.5 years. The findings leading to the diagnosis were impaired fasting glucose (IFG) (15/37), symptoms of hyperglycemia (4/37), and a GCK-MODY family history (18/37). Mean fasting blood glucose level was 6.67±1.64 mmol/L. In the sample, there were patients with normal values (4/37), those with DM (10/37), and IFG (23/37). In OGTT, 120 min glucose level was normal in 8, diabetic in 2, and characteristic for glucose intolerance in 27 of the 37 cases. Twelve of the 37 cases (32%) were identified as GCK-MODY carriers. In the total group, mean C-peptide level was 2.13±0.65 ng/mL and HbA1c was 6.26±0.45% (44.9±-18 mmol/mol). Thirty-two patients had a family history of DM. DM autoantibodies were detected in two patients. The most common mutations were p.Gly318Arg (11/37) and p.Val302Leu (8/37). There was no correlation between type of mutations and plasma glucose levels.
The phenotype of GCK-MODY patients may vary from those characteristic for other DM types to an asymptomatic state with normal FG with no correlation with genotype.
本研究旨在评估波兰西南部儿童青少年型葡萄糖激酶介导的成年发病型糖尿病（GCK-MODY）患者的临床表型，并寻找表型与基因型的相关性。
我们对2002年至2013年期间在本中心接受治疗的37例CGK-MODY患者的数据进行了回顾性分析，其中包括21名女孩和16名男孩，年龄在1.9至20.1岁（平均12.5±5.2岁）之间。
在1043例糖尿病（DM）患者中，GCK-MODY携带者的检出频率为3%，在我们中心构成了仅次于1型糖尿病的第二大糖尿病患者群体。GCK-MODY的平均诊断年龄为10.4±4.5岁。导致诊断的发现包括空腹血糖受损（IFG）（15/37）、高血糖症状（4/37）和GCK-MODY家族史（18/37）。平均空腹血糖水平为6.67±1.64 mmol/L。在样本中，有血糖值正常的患者（4/37）、糖尿病患者（10/37）和IFG患者（23/37）。在口服葡萄糖耐量试验（OGTT）中，37例中有8例120分钟血糖水平正常，2例为糖尿病，27例具有葡萄糖耐量异常特征。37例中有12例（32%）被确定为GCK-MODY携带者。在整个组中，平均C肽水平为2.13±0.65 ng/mL，糖化血红蛋白（HbA1c）为6.26±0.45%（44.9±18 mmol/mol）。32例患者有糖尿病家族史。两名患者检测到糖尿病自身抗体。最常见的突变是p.Gly318Arg（11/37）和p.Val302Leu（8/37）。突变类型与血糖水平之间无相关性。
GCK-MODY患者的表型可能与其他糖尿病类型的特征不同，甚至可能处于无症状状态且空腹血糖正常，与基因型无关。
