PDF(Pubmed)
Abstract：
OBJECTIVE: Maturity-onset diabetes of the young type 13 (MODY13), a rare type of monogenic diabetes, is often misdiagnosed as type 1 or type 2 diabetes. To improve early diagnosis and precise treatment, we performed a systematic review and analysis of the literature about MODY13.
METHODS: PubMed, Cochrane, Embase, China National Knowledge Infrastructure (CNKI), Chinese BioMedical (CBM) Literature Database, and Wanfang Database were searched using the following search terms: \"MODY13,\" \"KCNJ11 maturity-onset diabetes of the young,\" \"KCNJ11-MODY,\" \"maturity-onset diabetes of the young type 13,\" and \"neonatal diabetes mellitus KCNJ11.\" The demography, clinical characteristics, and gene mutations of patients were expressed with descriptive statistical methods.
RESULTS: A total of 33 reports were included in this study, including 75 patients and 28 types of mutations. Thirty-six patients were male. The mean onset age was 25.20 ± 15.26 years. The averages of recorded body mass index, glycated hemoglobin (HbA1c), and fasting C-peptide were 23.45 ± 4.56kg/m2 , 10.07 ± 1.96%, and 0.31 ± 0.23nmol/L, respectively. Most of the mutation sites were located in the cytosolic region of N- and C-terminal domains of Kir6.2. Seven patients were reported to have diabetic chronic complications.
CONCLUSIONS: MODY13 was diagnosed later than other types of MODY and was associated with low fasting C-peptide. Mutation sites of MODY13 were mostly concentrated in N- and C-terminal intracellular domains. The majority of KCNJ11 gene mutations causing MODY 13 were from G to A. The incidence rates of chronic complications were lower than type 1 and type 2 diabetes.
METHODS: PubMed, Cochrane, Embase, China National Knowledge Infrastructure (CNKI), Chinese BioMedical (CBM) Literature Database, and Wanfang Database were searched using the following search terms: \"MODY13,\" \"KCNJ11 maturity-onset diabetes of the young,\" \"KCNJ11-MODY,\" \"maturity-onset diabetes of the young type 13,\" and \"neonatal diabetes mellitus KCNJ11.\" The demography, clinical characteristics, and gene mutations of patients were expressed with descriptive statistical methods.
RESULTS: A total of 33 reports were included in this study, including 75 patients and 28 types of mutations. Thirty-six patients were male. The mean onset age was 25.20 ± 15.26 years. The averages of recorded body mass index, glycated hemoglobin (HbA1c), and fasting C-peptide were 23.45 ± 4.56kg/m2 , 10.07 ± 1.96%, and 0.31 ± 0.23nmol/L, respectively. Most of the mutation sites were located in the cytosolic region of N- and C-terminal domains of Kir6.2. Seven patients were reported to have diabetic chronic complications.
CONCLUSIONS: MODY13 was diagnosed later than other types of MODY and was associated with low fasting C-peptide. Mutation sites of MODY13 were mostly concentrated in N- and C-terminal intracellular domains. The majority of KCNJ11 gene mutations causing MODY 13 were from G to A. The incidence rates of chronic complications were lower than type 1 and type 2 diabetes.
摘要：
目标：年轻13型糖尿病（MODY13），一种罕见的单基因糖尿病,常被误诊为1型或2型糖尿病。提高早期诊断和精准治疗水平,我们对有关MODY13的文献进行了系统回顾和分析.
方法：PubMed，科克伦,Embase,中国国家知识基础设施(CNKI),中国生物医学文献数据库,和万方数据库使用以下搜索词进行搜索：\"MODY13，\"\"KCNJ11成年发病型糖尿病，\"\"KCNJ11-MODY,“年轻13型成熟型糖尿病”和“新生儿糖尿病KCNJ11。\"人口统计学,临床特征,用描述性统计方法对患者的基因突变进行表达。
结果：本研究共纳入33份报告，包括75名患者和28种突变类型。36例患者为男性。平均发病年龄为25.20±15.26岁。记录的身体质量指数的平均值，糖化血红蛋白（HbA1c），空腹C肽为23.45±4.56kg/m2,10.07±1.96%，和0.31±0.23nmol/L，分别。大多数突变位点位于Kir6.2的N和C末端结构域的胞浆区域。据报道有7例患者患有糖尿病慢性并发症。
结论：MODY13的诊断比其他类型的MODY晚，并且与低空腹C肽有关。MODY13的突变位点主要集中在N端和C端细胞内结构域。引起MODY13的KCNJ11基因突变大多数为G至A，慢性并发症的发生率低于1型和2型糖尿病。
方法：PubMed，科克伦,Embase,中国国家知识基础设施(CNKI),中国生物医学文献数据库,和万方数据库使用以下搜索词进行搜索：\"MODY13，\"\"KCNJ11成年发病型糖尿病，\"\"KCNJ11-MODY,“年轻13型成熟型糖尿病”和“新生儿糖尿病KCNJ11。\"人口统计学,临床特征,用描述性统计方法对患者的基因突变进行表达。
结果：本研究共纳入33份报告，包括75名患者和28种突变类型。36例患者为男性。平均发病年龄为25.20±15.26岁。记录的身体质量指数的平均值，糖化血红蛋白（HbA1c），空腹C肽为23.45±4.56kg/m2,10.07±1.96%，和0.31±0.23nmol/L，分别。大多数突变位点位于Kir6.2的N和C末端结构域的胞浆区域。据报道有7例患者患有糖尿病慢性并发症。
结论：MODY13的诊断比其他类型的MODY晚，并且与低空腹C肽有关。MODY13的突变位点主要集中在N端和C端细胞内结构域。引起MODY13的KCNJ11基因突变大多数为G至A，慢性并发症的发生率低于1型和2型糖尿病。
