8 例 Blau 综合征 / 早发型结节病临床表现、 病理特征及基因突变的多样性分析

Objective To summarize the clinical manifestations, pathological features and gene mutation diversity of Blau syndrome/ early-onset sarcoidosis. Methods We collected general data, clinical manifestations, and auxiliary examination results from 8 patients who were diagnosed of Blau syndrome/ early- onset sarcoidosis and treated in our hospital from January 2011 to December 2022, and then summarized and analyzed their characteristics and diversity. Results Among the 8 patients, 4 were males and 4 were females. The onset age was 3 to 8 months old. Rash was the first symptom in 7 patients (87. 5%). 6 patients (75. 0%) had papules and erythema. 3 cases (37. 5%) had arthritis. 2 cases (25. 0%) had uveitis and other eye inflammation. 4 cases (50. 0%) also showed intermittent fever. 3 cases (37. 5%) showed symptoms in nerve and respiratory system, and hypertension respectively. The skin histopathology of 8 patients showed non-caseous granuloma formation. In laboratory detection, CRP and TNF-α were significantly increased before treatment, while IL-6, IL-8, TNF-α and IL-2 receptor (IL-2R) were significantly decreased in 5 patients after glucocorti- coid therapy. The results of genetic testing showed that 4 of the 7 patients had p. R334W (c. 1000C>T) muta- tion, 1 had p. H313R (c. 938A>G) and p. R471C (c. 1411C>T) double mutation, and 1 had p. 476_ 477del (c. 1427_ 1429delcct). Conclusions Blau syndrome/ early-onset sarcoidosis has significant features in clinical manifestations, histopathology and gene mutation, but it also has diversity.