Department of Pediatrics, Division of Rheumatology, Medical College of Wisconsin, Milwaukee, Wisconsin, USA.
Curr Opin Rheumatol. 2012 Sep;24(5):506-14. doi: 10.1097/BOR.0b013e32835689b9.
To review the single-gene defects that can mimic rheumatologic diseases.
Monogenic disorders can cause a variety of diseases that may be seen by a rheumatologist. Many of these illnesses present with recurrent episodes of arthritis, rash, fever and inflammation, and serositis. Recent discoveries have defined inflammatory diseases due to mutations in the IL-1 and IL-36 receptor antagonists, as well as the immunoproteosome. Further study of well defined monogenic causes of inflammatory diseases, such as FMF, PAPA, TRAPS, and HIDS, has elucidated the pathophysiology of these diseases leading to targeted immunotherapy with anticytokine biological medications.
A rheumatologist should be aware of the genetic causes of inflammatory disease mimics. This will not only help with the prognosis of these diseases, but also help to guide therapy to prevent long-term complications associated with these disorders.
单基因缺陷可模拟风湿性疾病。
单基因疾病可引起多种风湿科医生可诊治的疾病。这些疾病中有许多表现为关节炎、皮疹、发热和炎症、浆膜炎反复发作。最近的发现定义了由于白细胞介素-1 和白细胞介素-36 受体拮抗剂以及免疫蛋白酶体突变引起的炎症性疾病。对纤维肌痛、PAPA 病、肿瘤坏死因子受体相关周期性综合征和高免疫球蛋白 D 血症伴发热综合征等明确的单基因炎症性疾病病因的进一步研究，阐明了这些疾病的病理生理学，从而导致针对细胞因子的靶向免疫治疗。
风湿科医生应该了解炎症性疾病模拟物的遗传原因。这不仅有助于预测这些疾病，还有助于指导治疗，以预防与这些疾病相关的长期并发症。
