Head of Ocular Inflammatory Diseases Head of Clinical Research Uveitis and Medical Retina Consultant, Saint John of Jerusalem Eye Hospital Group, Jerusalem, Palestine.
Saint John of Jerusalem Eye Hospital Group, Jerusalem, Palestine.
Pediatr Rheumatol Online J. 2021 Aug 31;19(1):138. doi: 10.1186/s12969-021-00633-y.
This case study documents the first familial case of Blau syndrome (BS) in Palestine characterized with mutation in CARD15/NOD2.
Eighteen years old female was initially misdiagnosed with Juvenile idiopathic arthritis (JIA). The patient had been on steroids and methotrexate treatment for the last 16 years, but did not respond well to treatment. Initial examination at Saint John of Jerusalem Eye Hospital Group clinic showed bilateral intermediate uveitis with camptodactyly. The patient's sister (aged 19 years) had bilateral intermediate uveitis and camptodactyly. Both eyes of their father had signs of old posterior uveitis. Father's left eye showed 360 degrees posterior synechia, mature cataract with old Keratic precipitates (KPs). He also had camptodactyly. The patient was referred to pediatric rheumatologist to rule out sarcoidosis. Lung CT scan showed bronchiectasis, genetic consultation followed. Complete eye examination, full history, refraction, and Optical coherence tomography (oct) were done. Systemic and topical steroid therapy could not control the ocular inflammation. The family then was referred to a geneticist. Genetic analyses showed that the proband and all three family members had an R334q mutation in the CARD15/Nod2 gene.
BS should be considered in the differential diagnosis of childhood uveitis, especially in low and middle income countries where it is misdiagnosed in many cases, which delay appropriate diagnosis and thus control. Genetic analysis of the CARD15/Nod2 gene is helpful in the diagnosis. Steroids alone are not enough to control the disease, other immunosuppressants and biologics are needed.
本病例研究记录了巴勒斯坦首例以 CARD15/NOD2 基因突变为特征的布劳综合征（BS）家族病例。
一名 18 岁女性最初被误诊为幼年特发性关节炎（JIA）。患者在过去 16 年中接受了类固醇和甲氨蝶呤治疗，但治疗效果不佳。圣约翰耶路撒冷眼科医院集团诊所的初步检查显示双侧中间葡萄膜炎伴指（趾）弯曲。患者的妹妹（19 岁）有双侧中间葡萄膜炎和指（趾）弯曲。父亲的双眼都有陈旧性后葡萄膜炎的迹象。父亲的左眼有 360 度后粘连、成熟白内障和陈旧性角膜后沉着物（KPs）。他也有指（趾）弯曲。患者被转介给儿科风湿病医生以排除类肉瘤病。肺部 CT 扫描显示支气管扩张，随后进行了遗传咨询。进行了全面的眼部检查、详细的病史、验光和光学相干断层扫描（oct）。全身和局部类固醇治疗无法控制眼部炎症。随后，该家庭被转介给遗传学家。基因分析显示，先证者和所有 3 名家庭成员均在 CARD15/Nod2 基因中存在 R334q 突变。
BS 应在儿童葡萄膜炎的鉴别诊断中考虑，特别是在中低收入国家，BS 在这些国家中有许多病例被误诊，这会延误适当的诊断和控制。CARD15/Nod2 基因的遗传分析有助于诊断。单独使用类固醇不足以控制疾病，需要其他免疫抑制剂和生物制剂。
