Betti Bettavia Hartama Pardosi, S. Herawati, N. Mulyantari
{"title":"一名患有唐氏综合症和2型糖尿病的儿童","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":"{\"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}","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}
A child with Down Syndrome and Type 2 Diabetic Mellitus
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.