Ankara University Faculty of Medicine, Department of Pediatric Endocrinology, Ankara, Turkey
Dr. Sami Ulus Obstetrics and Gynecology, Pediatric Health and Disease Training and Research Hospital, Clinic of Pediatric Endocrinology, Ankara, Turkey
J Clin Res Pediatr Endocrinol. 2024 Sep 5;16(3):297-305. doi: 10.4274/jcrpe.galenos.2024.2023-10-16. Epub 2024 Apr 26.
Maturity onset diabetes of the young (MODY) occurs due to mutations in genes involved in pancreatic beta cell function and insulin secretion, has heterogeneous clinical and laboratory features, and account for 1-5% of all diabetes cases. The prevalence and distribution of MODY subtypes vary between countries. The aim of this study was to evaluate the clinical and laboratory characteristics, mutation distribution, and phenotype-genotype relationship in a large case series of pediatric Turkish patients genetically diagnosed with MODY.
MODY cases from 14 different pediatric endocrinology departments were included. Diagnosis, treatment, follow-up data, and results of genetic analysis were evaluated.
A total of 224 patients were included, of whom 101 (45%) were female, and the mean age at diagnosis was 9.4±4.1 years. Gene variant distribution was: 146 (65%) GCK; 43 (19%) ; 8 (3.6%) , 8 (3.6%) and 7 (3.1%) . The remaining 12 variants were: (n=1), (n=3), (n=1), (n=3), (n= 3) and (n=1). Of the cases, 197 (87.9%) were diagnosed with incidental hyperglycemia, 16 with ketosis (7%) and 7 (3%) with diabetic ketoacidosis (DKA), while 30% presented with classical symptoms of diabetes. Two-hundred (89%) had a family history of diabetes. Anti-GAD antibody was detected in 13 cases, anti-islet antibody in eight and anti-insulin antibody in four. Obesity was present in 16. Distribution of therapy was: 158 (71%) diet only; 23 (11%) intensive insulin treatment; 17 (7.6%) sulfonylureas; 10 (4.5%) metformin; and 6 (2.7%) insulin and oral anti-diabetic treatment.
This was the largest genetically diagnosed series from Turkey. The most common gene variants were GCK and HNF1A with much lower proportions for other MODY types. Hyperglycemia was the most common presenting symptom while 11% of patients had diabetes-associated autoantibodies and 7% were obese. The majority of patients received dietary management only.
年轻起病的成年型糖尿病（MODY）是由于参与胰岛β细胞功能和胰岛素分泌的基因突变引起的，具有异质性的临床和实验室特征，占所有糖尿病病例的 1-5%。MODY 亚型的患病率和分布在不同国家有所不同。本研究的目的是评估经基因诊断为 MODY 的土耳其儿科患者的大型病例系列的临床和实验室特征、突变分布以及表型-基因型关系。
纳入来自 14 个不同儿科内分泌科的 MODY 病例。评估了诊断、治疗、随访数据以及基因分析的结果。
共纳入 224 例患者，其中 101 例（45%）为女性，诊断时的平均年龄为 9.4±4.1 岁。基因变异分布为：146 例（65%）为 GCK；43 例（19%）为 ；8 例（3.6%）为 、 、 ；8 例（3.6%）为 ；7 例（3.1%）为 。其余 12 种变异为： （n=1）、 （n=3）、 （n=1）、 （n=3）、 （n=3）和 （n=1）。其中，197 例（87.9%）为偶然高血糖诊断，16 例为酮症（7%），7 例（3%）为糖尿病酮症酸中毒（DKA），而 30%表现为糖尿病的典型症状。200 例（89%）有糖尿病家族史。13 例检测到抗谷氨酸脱羧酶抗体，8 例检测到胰岛抗体，4 例检测到抗胰岛素抗体。16 例存在肥胖。治疗分布为：158 例（71%）仅饮食治疗；23 例（11%）强化胰岛素治疗；17 例（7.6%）磺脲类药物；10 例（4.5%）二甲双胍；6 例（2.7%）胰岛素和口服抗糖尿病治疗。
这是来自土耳其的最大基因诊断系列。最常见的基因突变是 GCK 和 HNF1A，其他 MODY 类型的比例要低得多。高血糖是最常见的表现症状，而 11%的患者存在糖尿病相关自身抗体，7%的患者肥胖。大多数患者仅接受饮食管理。
