一名患有唐氏综合症和2型糖尿病的儿童

Betti Bettavia Hartama Pardosi, S. Herawati, N. Mulyantari
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摘要

唐氏综合症(DS)是引起智力迟钝的常见染色体疾病之一。众所周知,退行性椎体滑移患者患有影响内分泌和非内分泌器官的自身免疫性疾病。在退行性椎体滑移患儿中发生2型糖尿病(2型DM)是罕见的。与1型糖尿病不同,2型糖尿病是由自身免疫性朗格汉斯细胞íŸ-cells的破坏引起的,其发生是由于胰岛素分泌受损和肝脏葡萄糖生成过多。一名10岁女童病人从塔巴南医院转诊到登巴萨的Sanglah医院。患者入院时意识下降,治疗4天,ICU观察2天。呕吐两次,无癫痫,排尿正常。没有发现明显的既往病史。体格检查显示为典型的蒙古人脸,短脖子,枕骨面积扩大,眼睛小,嘴巴舌突出。实验室数据显示空腹血糖为473 mg/dL, HbA1C水平为12.6%。尿检显示酮3+。c肽试验显示相当好的íŸ胰腺细胞功能。唐氏综合症与自身免疫性疾病有关,包括1型糖尿病。唐氏综合征合并2型糖尿病的确切人数尚不清楚;但据悉,这种情况并不多见。
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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.
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