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首页> 外文期刊>Insights into Imaging >Monogenic autoinflammatory diseases in children: single center experience with clinical, genetic, and imaging review
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Monogenic autoinflammatory diseases in children: single center experience with clinical, genetic, and imaging review

机译:儿童单一的自身炎症性疾病:单中心体验临床,遗传和影像学审查

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Purpose 1. To review the contemporary literature and present a list of the imaging findings for patients with autoinflammatory diseases from our hospital. All these patients are found to have a genetic mutation that is responsible for their disease. 2. To present follow-up imaging findings, when available, and correlate those with symptoms and type of treatment administered in approximately 40 patients with autoinflammatory diseases of a single tertiary pediatric health care center including familial Mediterranean fever, Cryopyrin-associated autoinflammatory syndrome, PAPA (pyogenic arthritis, pyoderma gangrenousum, and acne) syndrome, and more. These findings are related to disease progression, treatment response, or treatment-induced changes. Conclusion Autoinflammatory diseases are relatively rare entities that can affect any system of the body. Given the many nonspecific imaging features, awareness of these diseases and good communication with clinicians aid in reaching an accurate diagnosis.
机译:目的1.审查当代文学,并提出来自我们医院的自身炎症疾病患者的成像结果清单。发现所有这些患者都有一个遗传突变,其负责它们的疾病。 2.在可用的情况下呈现后续成像结果,并将患有症状和治疗类型的症状和类型的症状和类型相关,包括家庭地中海热,乳蛋白相关的自身炎症综合征,爸爸(化脓性关节炎,Pyoderma gangrenousum和痤疮)综合征等等。这些发现与疾病进展,治疗反应或治疗诱导的变化有关。结论自身炎性疾病是相对罕见的实体,可以影响任何体系的身体。鉴于许多非特异性影像学特征,对这些疾病的认识以及与临床医生的良好沟通有助于达到准确的诊断。

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