摘要
目的探讨NLRP12自身炎症性疾病(NLRP12-autoinflammatory disease,NLRP12-AD)的临床特点,提高临床医师对本病的认识。方法分析北京协和医院2例NLRP12-AD患者的诊治过程。结果本文2例患者为首次报道的中国人汉族患者,主要表现为周期性发热、荨麻疹样皮疹、肌痛、关节痛/炎,激素治疗有效。基因检测均为NLRP12基因F402 L(c.1206 C>G)杂合突变。结论文献报道NLRP12-AD患者共26例,多为高加索人,多数NLRP12-AD患者有家族史(16/28,57%),也有散发病例。大部分患者幼年时期起病,少数成年起病(7/28,25%)。主要表现为周期性发热、荨麻疹样皮疹、肌痛、关节痛/炎、淋巴结肿大和脾大,部分患者出现头痛、感音神经性耳聋等中枢神经系统表现,还可出现胸痛、腹痛/腹泻等症状。发作时多数患者急相反应物质升高。NLRP12基因突变最常见的是p.F402L(c.1206 C>G)(15例,54%)。激素及抗组胺药物有效。NLRP12-AD是一种少见的常染色体显性遗传性自身炎症性疾病,成人起病者并不罕见。本文首次报道2例成人起病的中国人汉族NLRP12-AD。临床医师应提高对自身炎症性疾病的认识,基因检测有助于此类单基因自身炎症性疾病的确诊。
Objective To investigate the characteristics of NLRP12-autoinflammatory disease（ NLRP12-AD） and to improve the understanding of this disorder. Methods The clinical manifestations and treatments of 2patients with NLRP12-AD from Peking Union Medical College Hospital were analyzed. Results The 2patients in our study were the first reported Chinese Han patients. The main clinical features were periodic fever, urticaria-like rash, myalgia, and arthralgia/arthritis. Steroids administration was effective. Gene detection showed heterozygous mutation of NLRP12 gene F402 L（ c. 1206 C G）. Conclusions Totally26 NLRP12-AD patients were reported in English literature,among whom most were Caucasian. Most of the patients had family history（ 16 /28,57%）,but some of them were sporadic. The symptoms were usuallyonset during childhood,but adult-onset could also be seen in 25%（ 7 /28） patients,including these 2cases. The most predominant clinical presentations of NLRP12-AD patients were periodic fever,urticarialike rash,myalgia,arthralgia/arthritis,lymphadenopathy and splenomegaly,while headache,sensorineural deafness,thoracic pain,and abdominal pain/diarrhea could be seen as well,associated with findings of increased inflammatory parameters in laboratory investigation. NLRP12 gene mutation were found in all of the28 patients,and p. F402L（ c. 1206 C G） showed a high frequency（ 15/28,54%）. Steroids and antihistamine administration were probably effective. NLRP12-AD is a rare autosomal dominant inheriting autoinflammatory disease. Adult-onset is not uncommon in NLRP12-AD. This study is the first report of 2 Chinese Han patients with NLRP12-AD. Awareness of autoinflammatory diseases should be increased among physicians,especially rheumatologists,and gene confirmation remains a great help in the diagnosis of monogenetic autoinflammatory diseases.
出处
《中华临床免疫和变态反应杂志》
2015年第4期250-255,I0003,共7页
Chinese Journal of Allergy & Clinical Immunology
基金
国家自然科学基金资助(81501405)
北京协和医学院协和青年基金(中央高校基本科研业务费专项资金资助)(3332015092)
中华医学会临床医学科研专项资金(12040760376)
