Clinical Characteristics and Treatment of Blau Syndrome in Chinese Children-a National Multicenter Study
ZHANG Junmei,
ZHAO Xiaozhen,
TANG Xuemei,
ZHAO Yi'nan,
LI Li,
GAO Fengqiao,
SHI Xinwei,
JIN Yanliang,
ZHANG Yu,
CAO Lanfang,
YIN Wei,
XIAO Jihong,
KUANG Weiying,
DENG Jianghong,
WANG Jiang,
TAN Xiaohua,
LI Chao,
LI Shipeng,
XUE Haiyan,
LIU Cuihua,
LIU Xiaohui,
ZHAO Dongmei,
CHEN Yuqing,
ZHENG Wenjie,
LI Caifeng
Affiliations
ZHANG Junmei
ZHAO Xiaozhen
TANG Xuemei
Department of Rheumatology and Immunology, Children's Hospital of Chongqing Medical University, Chongqing 400014, China
ZHAO Yi'nan
Department of Rheumatology, Beijing Children's Hospital, Capital Medical University, National Centre for Children's Health, Beijing 100045, China
LI Li
Department of Rheumatology, Beijing Children's Hospital, Capital Medical University, National Centre for Children's Health, Beijing 100045, China
GAO Fengqiao
Department of Rheumatology, Beijing Children's Hospital, Capital Medical University, National Centre for Children's Health, Beijing 100045, China
SHI Xinwei
Department of Rheumatology, Beijing Children's Hospital, Capital Medical University, National Centre for Children's Health, Beijing 100045, China
JIN Yanliang
Department of Rheumatology, Shanghai Children's Medical Center, Shanghai Jiao Tong University School of Medicine, Shanghai 200127, China
ZHANG Yu
Department of Rheumatology and Immunology, Children's Hospital of Chongqing Medical University, Chongqing 400014, China
CAO Lanfang
Department of Pediatrics, Renji Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai 200001, China
YIN Wei
Department of Rheumatology and Immunology, Wuhan Children's Hospital, Wuhan 430016, China
XIAO Jihong
Department of Pediatrics, the First Affiliated Hospital of Xiamen University, Xiamen 361003, China
KUANG Weiying
Department of Rheumatology, Beijing Children's Hospital, Capital Medical University, National Centre for Children's Health, Beijing 100045, China
DENG Jianghong
Department of Rheumatology, Beijing Children's Hospital, Capital Medical University, National Centre for Children's Health, Beijing 100045, China
WANG Jiang
Department of Rheumatology, Beijing Children's Hospital, Capital Medical University, National Centre for Children's Health, Beijing 100045, China
TAN Xiaohua
Department of Rheumatology, Beijing Children's Hospital, Capital Medical University, National Centre for Children's Health, Beijing 100045, China
LI Chao
Department of Rheumatology, Beijing Children's Hospital, Capital Medical University, National Centre for Children's Health, Beijing 100045, China
LI Shipeng
Department of Rheumatology, Beijing Children's Hospital, Capital Medical University, National Centre for Children's Health, Beijing 100045, China
XUE Haiyan
Department of Pediatrics, Renji Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai 200001, China
LIU Cuihua
Department of Nephrology and Rheumatology, Children's Hospital Affiliated to Zhengzhou University, Henan Children's Hospital, Zhengzhou Children's Hospital, Zhengzhou 450018, China
LIU Xiaohui
Department of Rheumatology, Beijing Children's Hospital, Capital Medical University, National Centre for Children's Health, Beijing 100045, China
ZHAO Dongmei
Department of Rheumatology, Beijing Children's Hospital, Capital Medical University, National Centre for Children's Health, Beijing 100045, China
CHEN Yuqing
Department of Endocrinology, Rheumatology and Immunology, Anhui Provincial Children's Hospital, Hefei 230051, China
ZHENG Wenjie
Department of Paediatric Rheumatology, the 2nd Affiliated Hospital and Yuying Children's Hospital of WMU, Wenzhou 325000, China
LI Caifeng
Department of Rheumatology, Beijing Children's Hospital, Capital Medical University, National Centre for Children's Health, Beijing 100045, China
Objective To study the demographic and clinical characteristics, correlation of genotype and phenotype and treatment of Blau syndrome to facilitate early diagnosis and timely treatment of Blau syndrome. Methods Seventy-two patients with Blau syndrome from 11 centers from May 2006 to April 2022 were retrospectively analyzed, and their general information, clinical data, laboratory examination and treatment medication were collected. Results The distribution of patients with Blau syndrome was uniform in geographical north and south of China, and there was no obvious gender bias. The mean age of onset was (14.30±12.81) months, and the age of diagnosis was (55.18±36.22) months. 35% of patients with Blau syndrome happened before 1 year old, and all patients developed before 5 years old. 87.50% (63/72) had granulomatous arthritis, 65.28% (47/72) had rash, 36.11% (26/72) had ocular involvement, 27.78% (20/72) had fever, and 15.28% (11/72) had pulmonary involvement. Arthritic manifestations of Blau syndrome were most at risk, followed by rash, ocular involvement, and fever.The first 25 months of the disease, the risk of developing a rash was the greatest. The risk of developing arthritis was the greatest between 25 months and 84 months. The main mutations were p.R334Q and p.R334W, and patients with p.R334Q mutation had relatively high incidence of fever (35.71%[5/14] vs. 14.29%[1/7], P=0.43) and ocular involvement (42.86%[6/14]vs. 28.57%[2/7], P=0.51). There was a relatively high incidence of rash (85.71%[6/7] vs. 64.29%[9/14], P=0.59) in patients with the p.R334W mutation. Forty-five patients(62.50%)were treated with a combina-tion of glucocorticoid and methotrexate. Twenty-two patients were treated with tumor necrosis factor antagonist in addition to glucocorticoid and methotrexate. Conclusions The risk of different clinical manifestations of Blau syndrome from high to low was arthritis, followed by rash, ocular involvement and fever. The main treatment was glucocorticoid combined with methotrexate, to which biological agents could be added.
