تقرير
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.
| العنوان: | 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. |
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| المؤلفون: | Buchinskaya NV; Hospital Pediatry, Saint-Petersburg State Pediatric Medical University, Saint Petersburg, Russia., Isupova EA; Hospital Pediatry, Saint-Petersburg State Pediatric Medical University, Saint Petersburg, Russia., Vechkasova AO; Hospital Pediatry, Saint-Petersburg State Pediatric Medical University, Saint Petersburg, Russia., Malekov DA; Radiology Department, Saint-Petersburg State Pediatric Medical University, Saint Petersburg, Russia., Ivanov DO; Neonatology Department, Saint-Petersburg State Pediatric Medical University, Saint Petersburg, Russia., Kostik MM; Hospital Pediatry, Saint-Petersburg State Pediatric Medical University, Saint Petersburg, Russia. |
| المصدر: | Frontiers in medicine [Front Med (Lausanne)] 2024 Jan 19; Vol. 10, pp. 1252704. Date of Electronic Publication: 2024 Jan 19 (Print Publication: 2023). |
| نوع المنشور: | Case Reports |
| اللغة: | English |
| بيانات الدورية: | Publisher: Frontiers Media S.A Country of Publication: Switzerland NLM ID: 101648047 Publication Model: eCollection Cited Medium: Print ISSN: 2296-858X (Print) Linking ISSN: 2296858X NLM ISO Abbreviation: Front Med (Lausanne) Subsets: PubMed not MEDLINE |
| أسماء مطبوعة: | Original Publication: Lausanne, Switzerland : Frontiers Media S.A., [2014]- |
| مستخلص: | Summary: 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 months 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.During the treatment (baseline/6 months/12 months) the following was observed: childhood health assessment questionnaire (CHAQ) index of 1.88/2.13/1.63 points; patient's pediatric quality of life inventory (PedsQL) of 37/30/31 points; parental PedsQL of 26/27/34 points; and patient's 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. Conclusion: 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. Competing Interests: The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest. (Copyright © 2024 Buchinskaya, Isupova, Vechkasova, Malekov, Ivanov and Kostik.) |
| References: | Blood. 2015 Mar 26;125(13):2164-72. (PMID: 25624320) Rheumatol Int. 2003 Sep;23(5):221-5. (PMID: 14504913) Rheumatology (Oxford). 2011 Dec;50 Suppl 5:v4-12. (PMID: 22210669) Proc Natl Acad Sci U S A. 2010 Jan 5;107(1):222-7. (PMID: 20018674) JIMD Rep. 2020 Dec 08;58(1):89-99. (PMID: 33728251) Rheumatology (Oxford). 2024 Jan 4;63(1):140-148. (PMID: 37140539) Clin Rheumatol. 2007 Nov;26(11):1937-9. (PMID: 17264973) J Hum Genet. 2019 Nov;64(11):1153-1171. (PMID: 31455839) N Engl J Med. 2000 Mar 16;342(11):763-9. (PMID: 10717011) Sci Rep. 2016 Dec 02;6:38305. (PMID: 27910891) Pediatr Res. 2005 May;57(5 Pt 1):701-7. (PMID: 15746260) Blood Adv. 2021 Aug 24;5(16):3092-3101. (PMID: 34402882) Osteoarthritis Cartilage. 2013 Dec;21(12):1813-23. (PMID: 23954699) Mol Genet Metab Rep. 2017 Jan 15;10:75-80. (PMID: 28119823) Lab Invest. 2001 Sep;81(9):1319-28. (PMID: 11555679) Clin Rheumatol. 2002 Aug;21(4):284-8. (PMID: 12189454) Arthritis Res Ther. 2018 Dec 27;20(1):285. (PMID: 30587248) Front Pharmacol. 2022 May 13;13:863667. (PMID: 35645812) Mol Genet Metab. 2016 Apr;117(4):427-30. (PMID: 26873528) Clin Exp Rheumatol. 2006 Mar-Apr;24(2):196-202. (PMID: 16762159) |
| فهرسة مساهمة: | Keywords: MPS 1; arthropathy; etanercept; glycosaminoglycans; mucopolysaccharidosis type 1; tumor necropsy factor-α |
| تواريخ الأحداث: | Date Created: 20240205 Latest Revision: 20240206 |
| رمز التحديث: | 20240206 |
| مُعرف محوري في PubMed: | PMC10834648 |
| DOI: | 10.3389/fmed.2023.1252704 |
| PMID: | 38314027 |
| قاعدة البيانات: | MEDLINE |
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