Department of Rheumatology, National Clinical Research Center for Dermatologic and Immunologic Diseases (NCRC-DID), Key Laboratory of Rheumatology and Clinical Immunology, Ministry of Education, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, No. 1 Shuaifuyuan, Dongcheng District, Beijing, 100730, China.
Department of Rheumatology, Jilin Province People's Hospital, Changchun, China.
Sci Rep. 2021 Jun 7;11(1):11904. doi: 10.1038/s41598-021-91315-y.
NLRP3-associated autoinflammatory disease (NLRP3-AID) is a rare autosomal dominant disorder involving multiple systems. We aim to assess the ocular manifestations of Chinese adult patients with NLRP3-AID. Twelve adult patients (> 18 years old) were diagnosed as NLRP3-AID at the Department of Rheumatology, Peking Union Medical College Hospital. All patients underwent ophthalmologic evaluation by an ophthalmologist. Clinical and genetic features of these patients were collected and compared with those from Caucasian population. A total of 7 NLRP3-AID patients (58%) 14 eyes had ocular manifestations. Five NLRP3 variants were identified, and 3 patients (43%) with severe ocular damages were all found to have the NLRP3 T348M variant. The incidences of papilledema and optic atrophy in the Chinese adult NLRP3-AID patients of moderate type were similar to those in the Caucasian NLRP3-AID patients of severe type. This is the first cohort of Chinese adult NLRP3-AID patients with ocular involvement. Ocular manifestations were diverse and even severe in NLRP3-AID, particularly in patients with the moderate phenotype, and may have relationship with genotypes. Awareness of these manifestations by rheumatologists and ophthalmologists could help to avoid the irreversible ocular damages.
NLRP3 相关性自身炎症性疾病（NLRP3-AID）是一种罕见的常染色体显性遗传病，涉及多个系统。我们旨在评估中国成年 NLRP3-AID 患者的眼部表现。12 名成年患者（年龄>18 岁）在北京协和医院风湿免疫科被诊断为 NLRP3-AID。所有患者均由眼科医生进行眼科评估。收集这些患者的临床和遗传特征，并与高加索人群进行比较。共有 7 名（58%）NLRP3-AID 患者（14 只眼）出现眼部表现。共发现 5 个 NLRP3 变异体，3 名（43%）有严重眼部损害的患者均携带 NLRP3 T348M 变异体。中国成年 NLRP3-AID 患者中中症型的视乳头水肿和视神经萎缩的发生率与高加索 NLRP3-AID 患者的重症型相似。这是中国首例成年 NLRP3-AID 伴眼部受累的患者队列。NLRP3-AID 的眼部表现多样，甚至严重，尤其是在中症表型患者中，可能与基因型有关。风湿科医生和眼科医生对这些表现的认识可以帮助避免不可逆的眼部损害。
