Blau Syndrome and Early-Onset Sarcoidosis: A Six Case Series and Review of the Literature

Yıl: 2020 Cilt: 35 Sayı: 1 Sayfa Aralığı: 117 - 127 Metin Dili: İngilizce DOI: 10.5606/ArchRheumatol.2020.7060 İndeks Tarihi: 11-10-2020

Blau Syndrome and Early-Onset Sarcoidosis: A Six Case Series and Review of the Literature

Öz:
Objectives: This study aims to discuss the clinical, laboratory and genetic findings, and treatment options for six patients who were diagnosed withBlau syndrome (BS)/early-onset sarcoidosis (EOS).Patients and methods: The study included four patients (2 males,2 females; mean age 7 years; range 4 to 10 years) with EOS and two siblings(1 male, 1 female; mean age 10 years; range, 9 to 11 years) with BS. Age, age of initial symptoms, age of diagnosis; articular involvement, presence ofuveitis, dermatitis, or fever, other organ involvement, laboratory findings, results of metabolic tests for mucopolysaccharidosis and mucolipidosis,results of genetic, pathologic, and immunologic tests, radiologic findings to evaluate skeletal dysplasia, and treatment options were collected.Results: The median age at diagnosis of all patients was 6 years (range, 1 to 10 years). Five patients had camptodactyly and bilateral boggysynovitis in the wrists and ankles, one had granulomatous inflammatory changes in the liver and kidney biopsy, and one had attacks of fever andgranulomatous dermatitis. None had uveitis. The detected mutations in nucleotide-binding oligomerization domain containing 2 (NOD2) wereP268S (rs2066842), M513T (rs104895473), R702W (rs2066844), V955I (rs5743291), H343Y (rs199858111), and M491L (16:50745293). The treatments ofpatients included corticosteroids, non-steroid anti-inflammatory drugs, methotrexate, infliximab, adalimumab, anakinra, and canacinumab.Conclusion: Camptodactyly and boggy synovitis are important signs of BS/EOS. Methotrexate and tumor necrosis factor blockers are more effectivein patients with predominantly articular symptoms. In patients 5 and 6 and their mother, we determined a novel M491L mutation in the NOD2 gene.Currently, this work is in progress towards identifying the pathogenesis and treatment options for this disease.
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Belge Türü: Makale Makale Türü: Araştırma Makalesi Erişim Türü: Erişime Açık
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APA Pac Kisaarslan A, sozeri b, Sahin N, Özdemir Çiçek S, Gündüz Z, Demirkaya E, Berdeli A, Özcan S, poyrazoglu h, Dusunsel R (2020). Blau Syndrome and Early-Onset Sarcoidosis: A Six Case Series and Review of the Literature. , 117 - 127. 10.5606/ArchRheumatol.2020.7060
Chicago Pac Kisaarslan Aysenur,sozeri betul,Sahin Nihal,Özdemir Çiçek Sümeyra,Gündüz Zübeyde,Demirkaya Erkan,Berdeli Afig,Özcan Serdal Sadet,poyrazoglu hakan,Dusunsel Ruhan Blau Syndrome and Early-Onset Sarcoidosis: A Six Case Series and Review of the Literature. (2020): 117 - 127. 10.5606/ArchRheumatol.2020.7060
MLA Pac Kisaarslan Aysenur,sozeri betul,Sahin Nihal,Özdemir Çiçek Sümeyra,Gündüz Zübeyde,Demirkaya Erkan,Berdeli Afig,Özcan Serdal Sadet,poyrazoglu hakan,Dusunsel Ruhan Blau Syndrome and Early-Onset Sarcoidosis: A Six Case Series and Review of the Literature. , 2020, ss.117 - 127. 10.5606/ArchRheumatol.2020.7060
AMA Pac Kisaarslan A,sozeri b,Sahin N,Özdemir Çiçek S,Gündüz Z,Demirkaya E,Berdeli A,Özcan S,poyrazoglu h,Dusunsel R Blau Syndrome and Early-Onset Sarcoidosis: A Six Case Series and Review of the Literature. . 2020; 117 - 127. 10.5606/ArchRheumatol.2020.7060
Vancouver Pac Kisaarslan A,sozeri b,Sahin N,Özdemir Çiçek S,Gündüz Z,Demirkaya E,Berdeli A,Özcan S,poyrazoglu h,Dusunsel R Blau Syndrome and Early-Onset Sarcoidosis: A Six Case Series and Review of the Literature. . 2020; 117 - 127. 10.5606/ArchRheumatol.2020.7060
IEEE Pac Kisaarslan A,sozeri b,Sahin N,Özdemir Çiçek S,Gündüz Z,Demirkaya E,Berdeli A,Özcan S,poyrazoglu h,Dusunsel R "Blau Syndrome and Early-Onset Sarcoidosis: A Six Case Series and Review of the Literature." , ss.117 - 127, 2020. 10.5606/ArchRheumatol.2020.7060
ISNAD Pac Kisaarslan, Aysenur vd. "Blau Syndrome and Early-Onset Sarcoidosis: A Six Case Series and Review of the Literature". (2020), 117-127. https://doi.org/10.5606/ArchRheumatol.2020.7060
APA Pac Kisaarslan A, sozeri b, Sahin N, Özdemir Çiçek S, Gündüz Z, Demirkaya E, Berdeli A, Özcan S, poyrazoglu h, Dusunsel R (2020). Blau Syndrome and Early-Onset Sarcoidosis: A Six Case Series and Review of the Literature. Archives of Rheumatology, 35(1), 117 - 127. 10.5606/ArchRheumatol.2020.7060
Chicago Pac Kisaarslan Aysenur,sozeri betul,Sahin Nihal,Özdemir Çiçek Sümeyra,Gündüz Zübeyde,Demirkaya Erkan,Berdeli Afig,Özcan Serdal Sadet,poyrazoglu hakan,Dusunsel Ruhan Blau Syndrome and Early-Onset Sarcoidosis: A Six Case Series and Review of the Literature. Archives of Rheumatology 35, no.1 (2020): 117 - 127. 10.5606/ArchRheumatol.2020.7060
MLA Pac Kisaarslan Aysenur,sozeri betul,Sahin Nihal,Özdemir Çiçek Sümeyra,Gündüz Zübeyde,Demirkaya Erkan,Berdeli Afig,Özcan Serdal Sadet,poyrazoglu hakan,Dusunsel Ruhan Blau Syndrome and Early-Onset Sarcoidosis: A Six Case Series and Review of the Literature. Archives of Rheumatology, vol.35, no.1, 2020, ss.117 - 127. 10.5606/ArchRheumatol.2020.7060
AMA Pac Kisaarslan A,sozeri b,Sahin N,Özdemir Çiçek S,Gündüz Z,Demirkaya E,Berdeli A,Özcan S,poyrazoglu h,Dusunsel R Blau Syndrome and Early-Onset Sarcoidosis: A Six Case Series and Review of the Literature. Archives of Rheumatology. 2020; 35(1): 117 - 127. 10.5606/ArchRheumatol.2020.7060
Vancouver Pac Kisaarslan A,sozeri b,Sahin N,Özdemir Çiçek S,Gündüz Z,Demirkaya E,Berdeli A,Özcan S,poyrazoglu h,Dusunsel R Blau Syndrome and Early-Onset Sarcoidosis: A Six Case Series and Review of the Literature. Archives of Rheumatology. 2020; 35(1): 117 - 127. 10.5606/ArchRheumatol.2020.7060
IEEE Pac Kisaarslan A,sozeri b,Sahin N,Özdemir Çiçek S,Gündüz Z,Demirkaya E,Berdeli A,Özcan S,poyrazoglu h,Dusunsel R "Blau Syndrome and Early-Onset Sarcoidosis: A Six Case Series and Review of the Literature." Archives of Rheumatology, 35, ss.117 - 127, 2020. 10.5606/ArchRheumatol.2020.7060
ISNAD Pac Kisaarslan, Aysenur vd. "Blau Syndrome and Early-Onset Sarcoidosis: A Six Case Series and Review of the Literature". Archives of Rheumatology 35/1 (2020), 117-127. https://doi.org/10.5606/ArchRheumatol.2020.7060