Betti Bettavia Hartama Pardosi, S. Herawati, N. Mulyantari
{"title":"A child with Down Syndrome and Type 2 Diabetic Mellitus","authors":"Betti Bettavia Hartama Pardosi, S. Herawati, N. Mulyantari","doi":"10.24293/ijcpml.v28i3.1831","DOIUrl":null,"url":null,"abstract":"Down Syndrome (DS) is one of the common chromosomal disorders that raise mental retardation. It is known that DS patients have an autoimmune disorder affecting the endocrine and non-endocrine organs. It is a rare occurrence of type 2 Diabetes Mellitus (type 2 DM) disease in children with DS. Type 2 DM occurs due to impaired insulin secretion and excessive hepatic glucose production, unlike type 1 DM, caused by the destruction of íŸ-cells in autoimmune Langerhans. A 10-year-old girl patient was referred from Tabanan Hospital to Sanglah Hospital, Denpasar. Patients were admitted to the hospital with decreased consciousness, treated for four days, and observed in ICU for 2 days. Vomiting twice, no seizures, urinating normally. No significant past medical history was found. Physical examinations showed a typical Mongolian face, short neck, expanded occipital area, small eyes, and a mouth with a prominent tongue. Laboratory data revealed fasting blood glucose of 473 mg/dL and an HbA1C level of 12.6%. Urinalysis showed ketone 3+. The C-peptide test showed a reasonably good íŸ pancreas cell function. Down syndrome is associated with autoimmune diseases, including type 1 diabetes. The exact number of down syndrome cases with type 2 DM remains unknown; however, it was known that the case is infrequent.","PeriodicalId":354500,"journal":{"name":"Indonesian Journal of Clinical Pathology and Medical Laboratory","volume":"13 1","pages":"0"},"PeriodicalIF":0.0000,"publicationDate":"2022-09-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Indonesian Journal of Clinical Pathology and Medical Laboratory","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.24293/ijcpml.v28i3.1831","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
引用次数: 0
Abstract
Down Syndrome (DS) is one of the common chromosomal disorders that raise mental retardation. It is known that DS patients have an autoimmune disorder affecting the endocrine and non-endocrine organs. It is a rare occurrence of type 2 Diabetes Mellitus (type 2 DM) disease in children with DS. Type 2 DM occurs due to impaired insulin secretion and excessive hepatic glucose production, unlike type 1 DM, caused by the destruction of íŸ-cells in autoimmune Langerhans. A 10-year-old girl patient was referred from Tabanan Hospital to Sanglah Hospital, Denpasar. Patients were admitted to the hospital with decreased consciousness, treated for four days, and observed in ICU for 2 days. Vomiting twice, no seizures, urinating normally. No significant past medical history was found. Physical examinations showed a typical Mongolian face, short neck, expanded occipital area, small eyes, and a mouth with a prominent tongue. Laboratory data revealed fasting blood glucose of 473 mg/dL and an HbA1C level of 12.6%. Urinalysis showed ketone 3+. The C-peptide test showed a reasonably good íŸ pancreas cell function. Down syndrome is associated with autoimmune diseases, including type 1 diabetes. The exact number of down syndrome cases with type 2 DM remains unknown; however, it was known that the case is infrequent.