Discriminatory Analysis Of Early-onset Dabetes And Clinical Study Of Special Types Of Diabetes Such As MODY

Objective To analyze the clinical data of patients with early-onset diabetes(the age of diagnosis is less than or equal to 40 years old),to explore the critical value of clinical indexes which are valuable for the diagnosis of three kinds of diabetes mellitus.Methods Patients with early-onset diabetes admitted to our hospital from September2015 to June 2019 were collected as research objects,and were divided into classic T1DM group,latent autoimmune diabetes in adults(LADA)group and T2DM group.The general and clinical data of the three groups were compared.Draw the receiver operating curve(ROC)to describe the indicators that are meaningful for the differential diagnosis of classic T1DM and LADA,LADA and T2DM.And analyze the metabolic indexes related to inflammatory factor hs-CRP.Results 398 cases of early-onset diabetes were included,65 cases(16.3%)of class T1DM patients,283(71.1%)cases of T2DM,and 50 cases(12.6%)of LADA patients.1.Compared with classic T1DM and LADA,early onset T2DM had higher BMI,LDL,hs-CRP,Incidence of metabolic syndrome and family history,and lower HDL,incidence of Typical symptoms of diabetes and spontaneous ketosis(P<0.05).2.In terms of islet function,the fasting and postprandial 2h C peptide,insulin,T2DM was the largest,LADA was the second,and classic T1DM was the smallest(P<0.05).3.It has a certain value in the differential diagnosis of LADA and T2DM(AUC>0.7),including the following indexes and their corresponding critical values:BMI(24.3kg/m~2),TG(1.205mmol/L),hs-CRP(0.505mg/L),HOMA-IR(CP)(2.798),HOMA-β(CP)(17.106),fasting C peptide(0.925ng/m L),T2DM is considered in the diagnosis above the critical value and LADA is considered in the diagnosis below the critical value.4.It has a certain value in the differential diagnosis of classic T1DM and LADA(AUC>0.7).There are the following indexes and their corresponding critical values:HOMA-IR(CP)(2.046),HOMA-β(CP)(5.314),Fasting C-peptide(0.425ng/m L),When the indexes is higher than the critical value,the diagnosis of the patient is close to that of LADA.When the indexes is lower than the critical value,the diagnosis of the patient is close to that of classic T1DM.5.hs-CRP was positively correlated with TG,waist circumference,hip circum-ference,waist-to-hip ratio,BMI,HOMA-IR(CP),and negatively correlated with HDL(P<0.05).Conclusion The clinical indicators related to islet function and insulin resistance have a reference value for the classification of three types of diabetes;and indicators of obesity,inflammation factors have a reference value for the classification of early-onset T2DM and LADA.Objective To explore the genetic mutation types and clinical features of maturity onset diabetes of young(MODY)in our hospital;summarize the pathogenesis and clinical features of other rare special types of diabetes,and improve the understanding of rare diseases.Methods Patients with clinical manifestations that met the MODY inclusion criteria were collected on their medical history and laboratory examination data,and asked about the medical history of related family members.The patient’s DNA was extracted,and second-generation sequencing of MODY-related genes(except the KLF11,CEL,BLK,and APPL1 genes)was performed after PCR amplification.Sanger sequencing was performed to verify the mutations.Results 1.A total of 23 diabetic patients with clinical diagnosis of MODY,13 males and 10 females were placed.The number of patients with diabetes in each patient’s family was 2-5.Three patients with MODY were confirmed after genetic testing,making up 13% of all patients.One patient had MODY2 caused by GCK mutation.One patient had MODY5 caused by HNF1β gene mutation,and one patient had MODY12 caused by ABCC8 gene mutation.2.Three gene mutation sites were found that may be involved in the pathogenesis of MODY.GCK gene c.582+29G>T and HNF1β gene c.344+27C>T.May affect splicing;ABCC8 gene c.4372G>A,amino acid changes p.Ala1458Thr;all are newly reported mutations.3.Patients with the ABCC8 gene c.4372G> A heterozygous mutation is sensitive to sulfonylureas.4.Found a new gene mutation that may be involved in the pathogenesis of Type Ainsulin resistance syndrome(TAIRS).The clinical phenotype is hyperinsulinemia,fasting hypoglycemia,heterozygous mutation in INSR gene detected,c.3163G>C(p.A1055P).Conclusion Molecular testing is essential for the diagnosis of MODY and TAIRS patients.Correct diagnosis can give appropriate treatment and can predict the risk of relatives.Summarizing and analyzing the clinical features,molecular and immunological evidence of TAIRS and Type B Insulin Resistance Syndrome(TBIRS)will better understand the pathogenesis of severe insulin resistance and will be helpful for differential diagnosis in clinical work.