Family Collection And Pathogenic Gene Screening Of Maturity-Onset Diabetes Of The Young

Objective:Maturity-onset diabetes of the young(MODY)in adolescents is a special type of diabetes,which is caused by single gene mutation.According to the discovered pathogenic gene classification,MODY can be divided into 14 subtypes.MODY is different because of its mutation gene,according to their different clinical heterogeneity.This study intends to collect 10 suspicious cases,collect clinical data,collect blood samples of probands and family members,screen suspicious genes,determine their possible MODY subtypes,and ultimately make a definite diagnosis,provide patients with more appropriate treatment,and consult on eugenics and fertility.Method:According to the clinical diagnostic criteria of MODY,relevant criteria for admission were formulated.Suspicious patients and their family members who visited the First Affiliated Hospital of Anhui Medical University from 2016 to 2019 were selected for admission.Family maps were drawn according to the relationship of family members,and physical data and related experimental data were collected.At the same time,nucleus DNA of leucocytes isolated from peripheral blood was collected for gene detection.Physical examination data included height,weight,waist circumference,hip circumference,body mass index and waist-hip ratio.Laboratory data include: glycosylated hemoglobin,fasting blood glucose,30 minutes of steamed bread,120 minutes of steamed bread,fasting C-peptide,30 minutes of steamed bread,120 minutes of steamed bread,diabetes-related antibodies,etc.According to the results of gene detection of peripheral leukocyte nuclear DNA,the MODY typing of patients was judged,and the diagnosis was confirmed.Result:Five MODY-related positive families were found in the pedigrees of suspected adult-onset diabetes mellitus in adolescents.Among them,two were hapatocyte muclear factor 1A(HNF-1a)mutation-related MODY3 and one was pancreatic-duodenal homeobox 1(PDX-1)mutation-related.MODY4 and MODY8 related to mutation of carboxyl ester lipase gene(CEL)in two families.Conclusion:Adult diabetes mellitus in adolescents is often misdiagnosed as type 1 or type 2 diabetes because of its relatively insidious onset.However,the control objectives and treatment options of patients with MODY are different from those of ordinary diabetes mellitus patients,and even the treatment between different MODY types is quite different.Therefore,a clear genetic diagnosis is of great significance for the treatment of patients and the choice of eugenic and fertility.