{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,8,28]],"date-time":"2025-08-28T11:10:03Z","timestamp":1756379403867,"version":"3.44.0"},"reference-count":10,"publisher":"BMJ","issue":"1","content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["BMJ Case Rep"],"accepted":{"date-parts":[[2023,12,19]]},"published-print":{"date-parts":[[2024,1]]},"abstract":"<jats:p>Muckle-Wells syndrome (MWS) is a genetic periodic fever syndrome characterised by urticaria, fever and malaise starting in childhood with the development of perceptive hearing loss and risk of amyloidosis later in life.<\/jats:p>\n               <jats:p>Patient A, in his 60s, was referred to a nephrologist because of glomerular haematuria and elevated erythrocyte sedimentation rate. He appeared to have periodic fevers since childhood, skin changes in cold circumstances and progressive deafness since he was 30 years of age. Genetic analysis revealed a pathogenic variant in the <jats:italic>NLRP3<\/jats:italic> gene compatible with MWS. Treatment with anakinra (interleukin 1 antagonist) improved his symptoms, but only mild episodic arthralgia remained. Glomerular erythrocyturia diminished during treatment, supposing a relation between MWS and haematuria.<\/jats:p>\n               <jats:p>This case report shows that rare genetic fever syndromes starting from early childhood can still be diagnosed in adult patients, with important therapeutic consequences. Symptoms can be relieved and amyloidosis with potential renal failure may be prevented.<\/jats:p>","DOI":"10.1136\/bcr-2023-257494","type":"journal-article","created":{"date-parts":[[2024,1,10]],"date-time":"2024-01-10T00:58:18Z","timestamp":1704848298000},"page":"e257494","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":2,"title":["Adult patient diagnosed with Muckle-Wells syndrome, antiphospholipid syndrome and glomerular haematuria"],"prefix":"10.1136","volume":"17","author":[{"given":"Sofie LM","family":"Blokland","sequence":"first","affiliation":[{"name":"Department of Rheumatology and Clinical Immunology, University Medical Centre Utrecht, Utrecht, The Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maarten","family":"Limper","sequence":"additional","affiliation":[{"name":"Department of Rheumatology and Clinical Immunology, University Medical Centre Utrecht, Utrecht, The Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Albertien M","family":"van Eerde","sequence":"additional","affiliation":[{"name":"Department of Genetics, University Medical Centre Utrecht, Utrecht, The Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hilde HF","family":"Remmelts","sequence":"additional","affiliation":[{"name":"Department of Internal Medicine, Meander Medical Centre, Amersfoort, Utrecht, The Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[2024,1,8]]},"reference":[{"key":"2025082803561505000_17.1.e257494.1","doi-asserted-by":"publisher","DOI":"10.1007\/s00281-015-0491-7"},{"key":"2025082803561505000_17.1.e257494.2","doi-asserted-by":"publisher","DOI":"10.1016\/j.clim.2013.03.016"},{"key":"2025082803561505000_17.1.e257494.3","doi-asserted-by":"publisher","DOI":"10.1007\/s10875-022-01289-3"},{"key":"2025082803561505000_17.1.e257494.4","doi-asserted-by":"crossref","first-page":"227","DOI":"10.1146\/annurev-pathmechdis-030121-041528","article-title":"Inherited Autoinflammatory syndromes","volume":"17","author":"Rood","year":"2022","journal-title":"Annu Rev Pathol Mech Dis"},{"key":"2025082803561505000_17.1.e257494.5","doi-asserted-by":"crossref","first-page":"130","DOI":"10.1111\/j.1399-0004.1996.tb03271.x","article-title":"Urticaria, arthralgia, and nephropathy without Amyloidosis: another variant of the Muckle-wells syndrome","volume":"49","author":"Throssell","year":"1996","journal-title":"Clin Genet"},{"key":"2025082803561505000_17.1.e257494.6","doi-asserted-by":"publisher","DOI":"10.1093\/qjmed\/91.7.489"},{"key":"2025082803561505000_17.1.e257494.7","article-title":"Urticaria, deafness, and Amyloidosis: a new Heredo-familial syndrome","volume":"31","author":"Wells M.","year":"1962","journal-title":"Q J Med"},{"issue":"default","key":"2025082803561505000_17.1.e257494.8","doi-asserted-by":"crossref","first-page":"369","DOI":"10.2147\/CLEP.S39981","article-title":"Systemic AA Amyloidosis: epidemiology, diagnosis, and management","volume":"6","author":"Real de Asua","year":"2014","journal-title":"CLEP"},{"key":"2025082803561505000_17.1.e257494.9","doi-asserted-by":"crossref","first-page":"855","DOI":"10.1080\/17512433.2017.1338946","article-title":"Pharmacological treatment options for Cryopyrin-associated periodic syndromes","volume":"10","author":"Landmann","year":"2017","journal-title":"Expert Rev Clin Pharmacol"},{"key":"2025082803561505000_17.1.e257494.10","doi-asserted-by":"publisher","DOI":"10.3324\/haematol.2018.205484"}],"container-title":["BMJ Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/bcr-2023-257494","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,8,28]],"date-time":"2025-08-28T10:56:25Z","timestamp":1756378585000},"score":1,"resource":{"primary":{"URL":"https:\/\/casereports.bmj.com\/lookup\/doi\/10.1136\/bcr-2023-257494"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,1]]},"references-count":10,"journal-issue":{"issue":"1","published-online":{"date-parts":[[2024,1,8]]},"published-print":{"date-parts":[[2024,1]]}},"alternative-id":["10.1136\/bcr-2023-257494"],"URL":"https:\/\/doi.org\/10.1136\/bcr-2023-257494","relation":{},"ISSN":["1757-790X"],"issn-type":[{"type":"electronic","value":"1757-790X"}],"subject":[],"published":{"date-parts":[[2024,1]]}}}