{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,19]],"date-time":"2026-10-19T12:21:03Z","timestamp":1792412463770,"version":"4.4.0"},"reference-count":13,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2024,7,18]],"date-time":"2024-07-18T00:00:00Z","timestamp":1721260800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"},{"start":{"date-parts":[[2024,7,18]],"date-time":"2024-07-18T00:00:00Z","timestamp":1721260800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"}],"funder":[{"DOI":"10.13039\/100008967","name":"Philipps-Universit\u00e4t Marburg","doi-asserted-by":"crossref","id":[{"id":"10.13039\/100008967","id-type":"DOI","asserted-by":"crossref"}]}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Sci Rep"],"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>Cryopyrin-associated periodic syndromes (CAPS) are orphan hereditary auto-inflammatory diseases with various phenotypes, including chronic kidney disease (CKD). Current therapies inhibit interleukin-1 (IL-1) to achieve clinical and serological remission; however, the effect on kidney involvement remains unclear. The objective of this study was to investigate the long-term efficacy of anti-IL-1 treatment with special emphasis on renal outcome. We retrospectively analysed clinical, genetic and laboratory data of patients with CAPS under anti-IL-1 therapy from a single-centre university outpatient clinic. Patients with CAPS (n\u2009=\u200928) were followed for a median of 11 (IQR 8.5\u201313) years. Four patients at various ages (19%), bearing the most common CAPS mutation R260W, had significant CKD at presentation. All affected patients were related; however, other family members with the same genetic variant did not develop CKD. While anti-IL-1 therapy was effective in lowering symptom burden and inflammatory parameters in all CAPS patients, two of the four individuals with significant CKD had persistent proteinuria and worsening kidney function. None of the patients without renal affection at therapy initiation developed relevant CKD in the follow-up period. We showed that in patients with CAPS: (1) CKD is a common complication; (2) renal involvement shows familial predisposition beyond the mutational status and is independent of age; (3) anti-IL-1 therapy results in sustained improvement of inflammatory parameters and symptom load and (4) may prevent development of CAPS-associated CKD but not affect kidney involvement when already present. Overall, early therapy initiation might sufficiently prevent renal disease manifestation and attenuate progression.<\/jats:p>","DOI":"10.1038\/s41598-024-67380-4","type":"journal-article","created":{"date-parts":[[2024,7,18]],"date-time":"2024-07-18T03:01:54Z","timestamp":1721271714000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":6,"title":["Long-term renal outcome of Cryopyrin-associated periodic syndrome (CAPS) under anti-Interleukin-1 therapy"],"prefix":"10.1038","volume":"14","author":[{"given":"Martin","family":"Russwurm","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sophia","family":"Johannsen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Birgit","family":"Kortus-G\u00f6tze","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christian S.","family":"Haas","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2024,7,18]]},"reference":[{"issue":"3","key":"67380_CR1","doi-asserted-by":"publisher","first-page":"319","DOI":"10.1016\/S1074-7613(04)00046-9","volume":"20","author":"L Agostini","year":"2004","unstructured":"Agostini, L. et al. NALP3 forms an IL-1\u03b2-processing inflammasome with increased activity in muckle-wells autoinflammatory disorder. Immunity 20(3), 319\u2013325 (2004).","journal-title":"Immunity"},{"issue":"8","key":"67380_CR2","doi-asserted-by":"publisher","first-page":"448","DOI":"10.1038\/s41584-022-00797-1","volume":"18","author":"L Broderick","year":"2022","unstructured":"Broderick, L. & Hoffman, H. M. IL-1 and autoinflammatory disease: Biology, pathogenesis and therapeutic targeting. Nat. Rev. Rheumatol. 18(8), 448\u2013463 (2022).","journal-title":"Nat. Rev. Rheumatol."},{"issue":"23","key":"67380_CR3","doi-asserted-by":"publisher","first-page":"2361","DOI":"10.1056\/NEJMoa070265","volume":"356","author":"HJ Lachmann","year":"2007","unstructured":"Lachmann, H. J. et al. Natural history and outcome in systemic AA amyloidosis. N. Engl. J. Med. 356(23), 2361\u20132371. https:\/\/doi.org\/10.1056\/NEJMoa070265 (2007).","journal-title":"N. Engl. J. Med."},{"issue":"23","key":"67380_CR4","doi-asserted-by":"publisher","first-page":"2416","DOI":"10.1056\/NEJMoa0810787","volume":"360","author":"HJ Lachmann","year":"2009","unstructured":"Lachmann, H. J. et al. Use of canakinumab in the cryopyrin-associated periodic syndrome. N. Engl. J. Med. 360(23), 2416\u20132245. https:\/\/doi.org\/10.1056\/NEJMoa0810787 (2009).","journal-title":"N. Engl. J. Med."},{"issue":"7","key":"67380_CR5","doi-asserted-by":"publisher","first-page":"1311","DOI":"10.1007\/s10067-013-2481-2","volume":"34","author":"R Scarpioni","year":"2015","unstructured":"Scarpioni, R. et al. Renal involvement in secondary amyloidosis of Muckle-Wells syndrome: Marked improvement of renal function and reduction of proteinuria after therapy with human anti-interleukin-1\u03b2 monoclonal antibody canakinumab. Clin. Rheumatol. 34(7), 1311\u20131316. https:\/\/doi.org\/10.1007\/s10067-013-2481-2 (2015).","journal-title":"Clin. Rheumatol."},{"issue":"6","key":"67380_CR6","doi-asserted-by":"publisher","first-page":"942","DOI":"10.1136\/annrheumdis-2016-209686","volume":"76","author":"JB Kuemmerle-Deschner","year":"2017","unstructured":"Kuemmerle-Deschner, J. B. et al. Diagnostic criteria for cryopyrin-associated periodic syndrome (CAPS). Ann. Rheum. Dis. 76(6), 942\u2013947. https:\/\/doi.org\/10.1136\/annrheumdis-2016-209686 (2017).","journal-title":"Ann. Rheum. Dis."},{"issue":"1","key":"67380_CR7","doi-asserted-by":"publisher","first-page":"63","DOI":"10.1038\/kisup.2012.65","volume":"3","author":"KDIGO","year":"2013","unstructured":"KDIGO. Chapter 2: Definition, identification, and prediction of CKD progression. Kidney Int. Suppl. 3(1), 63\u201372 (2013).","journal-title":"Kidney Int. Suppl."},{"issue":"11","key":"67380_CR8","doi-asserted-by":"publisher","first-page":"2043","DOI":"10.1136\/annrheumdis-2013-204991","volume":"74","author":"R Levy","year":"2015","unstructured":"Levy, R. et al. Phenotypic and genotypic characteristics of cryopyrin-associated periodic syndrome: a series of 136 patients from the Eurofever Registry. Ann. Rheum. Dis. 74(11), 2043\u20132049. https:\/\/doi.org\/10.1136\/annrheumdis-2013-204991 (2015).","journal-title":"Ann. Rheum. Dis."},{"issue":"11","key":"67380_CR9","doi-asserted-by":"publisher","first-page":"2233","DOI":"10.1002\/art.40208","volume":"69","author":"JB Kuemmerle-Deschner","year":"2017","unstructured":"Kuemmerle-Deschner, J. B. et al. Brief report: Clinical and molecular phenotypes of low-penetrance variants of NLRP3: Diagnostic and therapeutic challenges. Arthritis Rheumatol. 69(11), 2233\u20132240. https:\/\/doi.org\/10.1002\/art.40208 (2017).","journal-title":"Arthritis Rheumatol."},{"issue":"12","key":"67380_CR10","doi-asserted-by":"publisher","first-page":"2095","DOI":"10.1136\/ard.2011.152728","volume":"70","author":"JB Kuemmerle-Deschner","year":"2011","unstructured":"Kuemmerle-Deschner, J. B. et al. Two-year results from an open-label, multicentre, phase III study evaluating the safety and efficacy of canakinumab in patients with cryopyrin-associated periodic syndrome across different severity phenotypes. Ann. Rheum. Dis. 70(12), 2095\u20132102. https:\/\/doi.org\/10.1136\/ard.2011.152728 (2011).","journal-title":"Ann. Rheum. Dis."},{"issue":"4","key":"67380_CR11","doi-asserted-by":"publisher","first-page":"689","DOI":"10.1093\/rheumatology\/kev416","volume":"55","author":"JB Kuemmerle-Deschner","year":"2016","unstructured":"Kuemmerle-Deschner, J. B. et al. Real-life effectiveness of canakinumab in cryopyrin-associated periodic syndrome. Rheumatology 55(4), 689\u2013696. https:\/\/doi.org\/10.1093\/rheumatology\/kev416 (2016).","journal-title":"Rheumatology"},{"issue":"12","key":"67380_CR12","doi-asserted-by":"publisher","first-page":"3783","DOI":"10.1002\/art.27696","volume":"62","author":"JB K\u00fcmmerle-Deschner","year":"2010","unstructured":"K\u00fcmmerle-Deschner, J. B. et al. Risk factors for severe Muckle-Wells syndrome. Arthritis Rheum. 62(12), 3783\u20133791. https:\/\/doi.org\/10.1002\/art.27696 (2010).","journal-title":"Arthritis Rheum."},{"issue":"4","key":"67380_CR13","doi-asserted-by":"publisher","first-page":"1116","DOI":"10.1002\/art.37827","volume":"65","author":"T Lane","year":"2013","unstructured":"Lane, T. et al. Brief Report: AA amyloidosis complicating the hereditary periodic fever syndromes. Arthritis Rheum. 65(4), 1116\u20131121. https:\/\/doi.org\/10.1002\/art.37827 (2013).","journal-title":"Arthritis Rheum."}],"container-title":["Scientific Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.nature.com\/articles\/s41598-024-67380-4.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.nature.com\/articles\/s41598-024-67380-4","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.nature.com\/articles\/s41598-024-67380-4.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,7,18]],"date-time":"2024-07-18T03:05:30Z","timestamp":1721271930000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.nature.com\/articles\/s41598-024-67380-4"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,7,18]]},"references-count":13,"journal-issue":{"issue":"1","published-online":{"date-parts":[[2024,12]]}},"alternative-id":["67380"],"URL":"https:\/\/doi.org\/10.1038\/s41598-024-67380-4","relation":{"has-preprint":[{"id-type":"doi","id":"10.21203\/rs.3.rs-3951042\/v1","asserted-by":"object"}]},"ISSN":["2045-2322"],"issn-type":[{"value":"2045-2322","type":"electronic"}],"subject":[],"published":{"date-parts":[[2024,7,18]]},"assertion":[{"value":"12 February 2024","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"10 July 2024","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"18 July 2024","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"The authors declare no competing interests.","order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}}],"article-number":"16595"}}