DOWN’s syndrome with Systemic Lupus Erythematosis: Never turn a blind eye

S. Kidwai, Hoori Shahwar
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Abstract

Down’s syndrome (DS, Trisomy 21) with a prevalence of 1:8,000 live births is considered the most common genetic chromosomal disorder, with an extra full or partial copy of chromosome 21. In addition to physical and mental developmental delays and disabilities being a challenge to this disorder, vulnerability of DS patients to a variety of autoimmune diseases like diabetes, thyroid disorders and celiac disease is also well established suggesting impaired immune response especially cell mediated immunity. In the last 3 decades, a few cases of Systemic Lupus Erythematosis (SLE) have been identified and reported internationally, this case report adds to this rare association and also endorses the need to carefully evaluate and investigate the DS individuals for the presence of connective tissue disorders especially if there is already an existing autoimmune disorder like diabetes, celiac or thyroid disorder.
唐氏综合症伴系统性红斑狼疮:千万不要视而不见
唐氏综合症(DS, 21三体)的患病率为1:8 000活产,被认为是最常见的遗传性染色体疾病,伴有21号染色体的额外完整或部分拷贝。除了身体和精神发育迟缓和残疾是这一疾病的挑战外,DS患者易患多种自身免疫性疾病,如糖尿病、甲状腺疾病和乳糜泻,这也表明免疫反应受损,尤其是细胞介导的免疫。在过去的30年里,国际上已经发现和报道了一些系统性红斑狼疮(SLE)的病例,本病例报告增加了这种罕见的关联,也支持了仔细评估和调查DS个体是否存在结缔组织疾病的必要性,特别是如果已经存在自身免疫性疾病,如糖尿病、乳糜泻或甲状腺疾病。
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