{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,25]],"date-time":"2026-02-25T22:52:33Z","timestamp":1772059953529,"version":"3.50.1"},"reference-count":20,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2024,1,19]],"date-time":"2024-01-19T00:00:00Z","timestamp":1705622400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Med."],"abstract":"<jats:sec><jats:title>Summary<\/jats:title><jats:p>A 12-year-old girl with mucopolysaccharidosis (MPS) type I (Gurler-Scheie syndrome, Q70X\/del C683 of the IDUA gene in the compound heterozygous state) regularly received enzyme replacement therapy (laronidase) since the preclinical stage (6\u2009months old) due to positive family history, and started etanercept treatment due to progression of joint pain and decreasing capability to walk. The patient had a significant reduction of pain in the joints and an expansion of daily physical activity without adverse events. A decrease in bone marrow edema without foci progression compared to baseline assessment was observed in the whole-body MRI.<\/jats:p><jats:p>During the treatment (baseline\/6\u2009months\/12\u2009months) the following was observed: childhood health assessment questionnaire (CHAQ) index of 1.88\/2.13\/1.63 points; patient\u2019s pediatric quality of life inventory (PedsQL) of 37\/30\/31 points; parental PedsQL of 26\/27\/34 points; and patient\u2019s pain visual-analog scale (VAS) of 75\/45\/40, with no VAS recorded for the mother. Juvenile arthritis functional assessment report (JAFAR) scores of 35\/34\/8 points were observed. A significant reduction in the taking of NSAIDs was observed. In the second half of the year, the nasal breathing became normal, and remission in chronic rhinitis and adenoiditis was achieved (no infection episodes) without otitis episodes.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>Etanercept in mucopolysaccharidosis type 1 is safe and well tolerated. The reduction of joint pain and increased walking capacity were observed. A decreased number of respiratory infection episodes and nasal breathing improvement were noted during the treatment. The observation shows the role of inflammation in the different aspects of MPS. Further investigations on immune system dysregulation in patients with MPS I are needed. Additional studies on the efficacy and safety of anti-rheumatic biological drugs in patients with MPSI are required.<\/jats:p><\/jats:sec>","DOI":"10.3389\/fmed.2023.1252704","type":"journal-article","created":{"date-parts":[[2024,1,19]],"date-time":"2024-01-19T04:28:09Z","timestamp":1705638489000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":2,"title":["Evaluation of etanercept (a tumor necrosis factor alpha inhibitor) as an effective treatment for joint disease in mucopolysaccharidosis type I. A case report with whole-body magnetic resonance imaging"],"prefix":"10.3389","volume":"10","author":[{"given":"Natalia V.","family":"Buchinskaya","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Eugenia A.","family":"Isupova","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anastasia O.","family":"Vechkasova","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Damir A.","family":"Malekov","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dmitry O.","family":"Ivanov","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mikhail M.","family":"Kostik","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1965","published-online":{"date-parts":[[2024,1,19]]},"reference":[{"key":"ref1","doi-asserted-by":"publisher","first-page":"v4","DOI":"10.1093\/rheumatology\/ker394","article-title":"Overview of the mucopolysaccharidoses","volume":"50","author":"Muenzer","year":"2011","journal-title":"Rheumatology"},{"key":"ref2","doi-asserted-by":"publisher","first-page":"1319","DOI":"10.1038\/labinvest.3780345","article-title":"Articular chondrocytes from animals with a dermatan sulfate storage disease undergo a high rate of apoptosis and release nitric oxide and inflammatory cytokines: a possible mechanism underlying degenerative joint disease in the mucopolysaccharidoses","volume":"81","author":"Simonaro","year":"2001","journal-title":"Lab Investig"},{"key":"ref3","doi-asserted-by":"publisher","first-page":"701","DOI":"10.1203\/01.PDR.0000156510.96253.5A","article-title":"Joint and bone disease in mucopolysaccharidoses VI and VII: identification of new therapeutic targets and biomarkers using animal models","volume":"57","author":"Simonaro","year":"2005","journal-title":"Pediatr Res"},{"key":"ref4","doi-asserted-by":"publisher","first-page":"222","DOI":"10.1073\/pnas.0912937107","article-title":"Involvement of the toll-like receptor 4 pathway and use of TNF-alpha antagonists for treatment of the mucopolysaccharidoses","volume":"107","author":"Simonaro","year":"2010","journal-title":"Proc Natl Acad Sci U S A"},{"key":"ref5","doi-asserted-by":"publisher","first-page":"284","DOI":"10.1007\/s100670200075","article-title":"The urinary excretion of glycosaminoglycans and heparan sulphate in lupus nephritis","volume":"21","author":"Parildar","year":"2002","journal-title":"Clin Rheumatol"},{"key":"ref6","doi-asserted-by":"publisher","first-page":"221","DOI":"10.1007\/s00296-003-0294-3","article-title":"Increased excretions of glycosaminoglycans and heparan sulfate in lupus nephritis and rheumatoid arthritis","volume":"23","author":"Bi\u00e7er","year":"2003","journal-title":"Rheumatol Int"},{"key":"ref7","first-page":"196","article-title":"Attenuated type I mucopolysaccharidosis in the differential diagnosis of juvenile idiopathic arthritis: a series of 13 patients with Scheie syndrome","volume":"24","author":"Cimaz","year":"2006","journal-title":"Clin Exp Rheumatol"},{"key":"ref8","doi-asserted-by":"publisher","first-page":"1937","DOI":"10.1007\/s10067-007-0549-6","article-title":"Legg-Perthes disease-like joint involvement and diagnosis delay in Scheie syndrome: a case report","volume":"26","author":"Melikoglu","year":"2007","journal-title":"Clin Rheumatol"},{"key":"ref9","doi-asserted-by":"publisher","first-page":"1153","DOI":"10.1038\/s10038-019-0662-9","article-title":"Enzyme replacement therapy for mucopolysaccharidoses; past, present, and future","volume":"64","author":"Chen","year":"2019","journal-title":"J Hum Genet"},{"key":"ref10","doi-asserted-by":"publisher","first-page":"1813","DOI":"10.1016\/j.joca.2013.08.001","article-title":"Osteoimmunology in mucopolysaccharidoses type I, II, VI and VII. 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