Schimke免疫-骨发育不良1例报告并文献分析.doc

题 目 Schimke免疫-骨发育不良1例报告并文献分析 英文题目 One case report of Schimke immuno-osseous dysplasia 院 系 继续教育学院 专 业 临床医学 姓 名 谢萍 年 级 2015级 指导教师 二零一七年七月 【摘要】 目的 报道1例Schimke免疫-骨发育不良（Schimke immuno-osseous dysplasia，SIOD）患儿，提高对该病的早期识别，制定合理的治疗方案。 方法 收集2014年3月就诊于九江市第一人民医院的1例患儿临床资料，并复习文献总结其发病机制、临床特点及治疗方案。 结果 患儿表现为特殊面容、激素耐药肾病综合征、脊柱骨骺发育不良及T细胞免疫缺陷，可诊断为SIOD。 结论 对于有四肢与身高不协调、特殊面容及T细胞免疫缺陷等明显特点的激素耐药肾病综合征患儿，应考虑SIOD的可能，应尽早基因检查，明确诊断，制定合理治疗方案。 【关键词】Schimke免疫-骨发育不良；激素耐药肾病综合征； 脊柱骨骺发育不良 Abstract Objective To improve the knowledge of Schimke immuno-osseous dysplasia (SIOD) and formulate reasonable treatment scheme, one patient was reported. Methods In Mar. 2014, the clinical characteristics and laboratory investigations of one patient in Guilin medical college affiliated hospital was summarized, and the relevant literature about SIOD was reviewed. Results The patient present with special features , hormone resistant nephrotic syndrome, spondyloepiphyseal dysplasia and T-cell immunodeficiency. The diagnosis of the patient was SIOD. Conclusion To the patient who characterized by limbs with height is not harmonious, special features and T-cell immunodeficiency with hormone resistant nephrotic syndrome, SIOD could be suspected and should be take gene examination earlier, make the clarify diagnosis, and formulate a reasonable treatment plan. 【Keywords】 hormone resistant nephrotic syndrome; spondyloepiphyseal dysplasia 目 录 引 言 一、临床资料…………………………………………………………………………1 1. 一般情况 ……………………………………………………………………1 2. 特殊面容 ……………………………………………………………………1 3. 肾脏受累情况 ………………………………………………………………1 4. 骨骼 …………………………………………………………………………2 5. 血液及免疫 …………………………………………………………………2 6. 内分泌 ………………………………………………………………………2 7. 随访 …………………………………………………………………………2 二、讨论………………………………………………………………………………3 1. SIOD具有典型的特点 ………………………………………………………3 2. SI