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Endocrinology

                                              P-ENDO-031
                     The Role of PTPN22 Gene Polymorphism in Javanese Children
                                     with Type-1 Diabetes Mellitus

                          Fatimah Arief1, Nur Rochmah1, Muhammad Faizi1, Sukmawati Basuki2
              Department of Child Health  and Department of Medical Parasitology , Faculty of Medicine Universitas Airlangga/
                                                          2
                               1
                           Dr. Soetomo General Academic Hospital, Surabaya, East Java, Indonesia
                                               Abstract
            Background Type-1-diabetes mellitus (T1DM) is characterized by autoimmune destruction of insulin-
            producing beta cells of pancreatic islets by CD4+ cytotoxic Τ-lymphocytes. Protein tyrosine phosphatase
            nonreceptor type22(PTPN22) encodes the lymphoid-specific-tyrosine-phosphatase(Lyp),an inhibitor of the
            activation and proliferation of T lymphocytes. PTPN22 C1858T polymorphism was associated with T1DM
            in some populations in Asia dan Caucasian origin. Objective To analyze the C1858T polymorphism in
            Javanese children with T1DM. Methods A case-control study was held March-July 2021 in endocrinology
            outpatient clinic Dr. Soetomo Hospital and Tropical Disease Center Universitas Airlangga. Inclusion
            criteria were T1DM patients who control during periode. The PTPN22 polymorphism was detected by
            the PCR-restriction-fragment–length polymorphism(RFLP) method. The piece of PTPN22 gene including
            polymorphism at position 1858 was amplified with specifically designed primers, PTPN22 forward:5-
            ACTGATAATGTTGCTTCAACGG-3 and PTPN22 reverse:5-TCACCAGCTTCCTCAACCAC-3.
            Comparison  between  2  groups  analyzed  by  Fisher-exact  test.We  set  p-value<0.05  as  significant.
            Results There were 64 children included, 32 in T1DM and 32 in control group. Mean of age was 15.05
            years-old and mean of onset T1DM was 8.13 years-old. Majority of etnics was Javanese(80%). We found
            polymorphism genotype-CC(9.4%) and allele-C(54.6%) more frequent in T1DM group, but  polymorphism
            genotype-CT(100%) and allele-T(50%) more frequent in control group. The C-allele frequency was 54.6%
            in T1DM subjects and the T-allele frequency was 45.4% in T1DM subjects. Comparison between two
            group T1DM patients and control, there were no significantly different (P=0.2381).  Conclusion Our data
            demonstrate that polymorphism PTPN22 genotype-CC and allele-C more frequent in Javanese T1DM
            patient. T-allele PTPN22 gene constitute non-significant determinants of genetic predisposition of T1DM.
                            Keywords: type-1-diabetes mellitus; PTPN22 polymorphism; children


                                              P-ENDO-032
                    Diabetic Ketoacidosis Triggered by Infection in 14-year-old Girl:
                                            A Case Report

                                  Patrick Ramos Pakpahan, Gabriella Berta Risma
                     Departement of Child Health, Mardi Waluyo General Hospital, Metro, Lampung, Indonesia

                                               Abstract
            Introduction Diabetic ketoacidosis (DKA) is an acute complication in children with diabetes mellitus (DM).
            Infectious disease is common risk factor in many cases. Objective To learn how to diagnose and management
            of DKA. Case A female child, 14 year 7 month, body weight 36 kg came into emergency room with lost
            of consciousness for 7 hours. Before that she felt epigastric pain, nausea, headache, and fever. She lost of
            weight in several month, polydipsia, polyuria and polyphagia (triad of diabetic). She felt toothache for about
            1 week. Physical examination found patient soporocomatous with kussmaul breathing. White blood cell
            count 23.500/mm3, blood glucose level 850 g/dL, pH=7.15, HCO =9.6 mmHg, urinary ketone +1, Hba1C
                                                            3
            > 14%, and C-peptide 0,6 ng/mL. Patient diagnose with DKA with type 1 diabetes. Patient was given initial
            treatment with fluid resuscitation 1500cc NaCl in 1 hour, rapid insulin, Ringer lactat mix with KCl and
            antibiotic. Patient admitted to ICU, and after 24 hours patient condition was better. For further treatment
            patient was given subcutan insulin. Conclusion There must be awareness among parents and first care doctor
            for diabetes mellitus in children, there for decrease risk of DKA due to early diagnostic. Infection is a factor
            that we should not forget as a predisposition to the occurrence of DKA when meeting with child who have
            DKA. Initial therapy in DKA has important role for outcome and any complications.
                                  Keywords: diabetes mellitus; infection; ketoacidosis





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