Περίληψη:
Blau syndrome (BS) is a rare, autosomal dominant monogenic autoinflammatory disease, usually presenting as a triad of symptoms (granulomatous dermatitis, uveitis, and nonerosive arthritis) and caused by gain-of-function mutations in the nucleotide oligomerization domain 2 (NOD2) gene. However, very few reports in children of copresence of BS with large vessel vasculitis exist. We hereby describe a case of BS associated with clinical features of Takayasu arteritis. An 8.5-year-old boy presented with hypertension, cardiac insufficiency, arthritis, and ocular disease. Among other investigations, he underwent cervical and chest computed tomography and computed tomography angiography scans that revealed the presence of type IIa Takayasu arteritis lesions. Genetic analysis revealed a heterozygous mutation of NOD2 gene leading to the amino acid exchange Arg-587-Cys in the NACHT domain of the NOD2 protein (R587C) as pathogenic cause of BS. He received treatment with prednisolone, methotrexate, and infliximab (antitumor necrosis factor-α) in addition to antihypertensive medication with a favorable clinical response. Cases of BS should be investigated for the coexistence of Takayasu arteritis. However, further research is required to delineate a possible common pathogenic mechanism between the two clinical entities. © 2021 Elsevier Editora Ltda. All rights reserved.
Συγγραφείς:
Bikouli, E.D.C.
Vazeou, A.
Xatzipsalti, M.
Servos, G.
Delis, D.
Maritsi, D.N.
Λέξεις-κλειδιά:
adalimumab; amino acid; amyloid A protein; C reactive protein; caspase recruitment domain protein 15; contrast medium; corticosteroid; digoxin; dipeptidyl carboxypeptidase; DNA; furosemide; hydroxychloroquine; infliximab; methotrexate; nucleotide; prednisolone; procalcitonin, aortic arch syndrome; arthritis; Article; atypical type iia takayasu arteritis; Blau syndrome; blood pressure regulation; body mass; case report; cataract; child; clinical article; clinical feature; computed tomographic angiography; computer assisted tomography; disease association; disease course; disease exacerbation; disease severity; DNA extraction; erythrocyte sedimentation rate; eye disease; fever; follow up; gene mutation; genetic analysis; heart failure; hepatomegaly; high throughput sequencing; human; hypertension; immunosuppressive treatment; intraocular pressure; juvenile rheumatoid arthritis; kidney artery stenosis; male; malnutrition; medical history; mitral valve regurgitation; multidetector computed tomography; physical examination; recurrent disease; saccular aneurysm; school child; systolic blood pressure; systolic heart murmur; tenosynovitis; treatment response; uveitis; vascular lesion
