{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,2,21]],"date-time":"2025-02-21T23:34:29Z","timestamp":1740180869461,"version":"3.37.3"},"reference-count":26,"publisher":"Consilium Medicum","issue":"6","license":[{"start":{"date-parts":[[2023,8,17]],"date-time":"2023-08-17T00:00:00Z","timestamp":1692230400000},"content-version":"unspecified","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc-sa\/4.0"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Terapevticheskii arkhiv"],"abstract":"<jats:p>FabryAndersen disease is a genetically determined, progressive disease related to lysosomal storage diseases, linked to the X chromosome, characterized by impaired glycosphingolipid metabolism, due to the deficiency or absence of the enzyme -galactosidase A. Fabry disease is a multisystem disease and is characterized by damage to vital organs  kidneys, heart, brain, with the occurrence of complications that cause an unfavorable prognosis. Autoinflammation mechanisms with signs of chronic inflammation are involved in the pathogenesis of the disease. One of the features of Fabry disease are clinical manifestations in the form of arthralgia, fever, skin lesions, which are similar to rheumatological diseases. The article presents a clinical observation of the classical type of Fabry disease with multiple organ manifestation, which required differential diagnosis with rheumatological diseases. Rheumatologists are specialists who are involved in the early diagnosis of Fabry disease, so they should have a high awareness of this sphingolipidosis.<\/jats:p>","DOI":"10.26442\/00403660.2023.06.202244","type":"journal-article","created":{"date-parts":[[2023,8,17]],"date-time":"2023-08-17T10:20:07Z","timestamp":1692267607000},"page":"505-510","source":"Crossref","is-referenced-by-count":1,"title":["Multisystem lesions in orphan diseases: rheumatological aspects of Fabry's disease. Case report"],"prefix":"10.26442","volume":"95","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-8548-8281","authenticated-orcid":false,"given":"Olga V.","family":"Mashkunova","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3172-3610","authenticated-orcid":false,"given":"Asel H.","family":"Isabekova","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6694-2664","authenticated-orcid":false,"given":"Aigerim Z.","family":"Botabekova","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0148-5655","authenticated-orcid":false,"given":"Pavel I.","family":"Novikov","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"18344","published-online":{"date-parts":[[2023,8,17]]},"reference":[{"key":"ref1","doi-asserted-by":"publisher","DOI":"10.2174\/13816128113199990352"},{"key":"ref2","doi-asserted-by":"publisher","DOI":"10.1007\/s10067-006-0299-x"},{"key":"ref3","doi-asserted-by":"publisher","DOI":"10.1007\/BF02283120"},{"key":"ref4","doi-asserted-by":"publisher","DOI":"10.1016\/j.amjms.2020.07.011"},{"key":"ref5","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2018.02.014"},{"key":"ref6","unstructured":"\u041d\u043e\u0432\u0438\u043a\u043e\u0432 \u041f.\u0412., \u0410\u0441\u0430\u043d\u043e\u0432 \u0410.\u042e., \u041a\u043e\u043f\u0438\u0448\u0438\u043d\u0441\u043a\u0430\u044f \u0421.\u0412., \u0438 \u0434\u0440. \u0424\u0435\u0434\u0435\u0440\u0430\u043b\u044c\u043d\u044b\u0435 \u043a\u043b\u0438\u043d\u0438\u0447\u0435\u0441\u043a\u0438\u0435 \u0440\u0435\u043a\u043e\u043c\u0435\u043d\u0434\u0430\u0446\u0438\u0438 \u043f\u043e \u0434\u0438\u0430\u0433\u043d\u043e\u0441\u0442\u0438\u043a\u0435 \u0438 \u043b\u0435\u0447\u0435\u043d\u0438\u044e \u0431\u043e\u043b\u0435\u0437\u043d\u0438 \u0424\u0430\u0431\u0440\u0438. \u041c., 2013 [Novikov PV, Asanov AYu, Kopishinskaya SV, et al. Federal'nye klinicheskie rekomendatsii po diagnostike i lecheniiu bolezni Fabri. Moscow, 2013 (in Russian)]."},{"key":"ref7","doi-asserted-by":"publisher","DOI":"10.1681\/ASN.2016090964"},{"key":"ref8","doi-asserted-by":"publisher","DOI":"10.1016\/j.kint.2016.10.004"},{"key":"ref9","doi-asserted-by":"publisher","DOI":"10.7555\/JBR.31.20160063"},{"key":"ref10","doi-asserted-by":"publisher","DOI":"10.1086\/504601"},{"key":"ref11","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-006-0196-0"},{"key":"ref12","doi-asserted-by":"publisher","DOI":"10.1016\/j.cjca.2015.10.033"},{"key":"ref13","doi-asserted-by":"publisher","DOI":"10.3390\/jcm10081664"},{"key":"ref14","doi-asserted-by":"publisher","DOI":"10.32756\/0869-5490-2020-4-36-43"},{"key":"ref15","doi-asserted-by":"publisher","DOI":"10.32756\/0869-5490-2021-3-43-51"},{"key":"ref16","unstructured":"\u041c\u043e\u0438\u0441\u0435\u0435\u0432 \u0421.\u0412., \u041d\u043e\u0432\u0438\u043a\u043e\u0432 \u041f.\u0418., \u0424\u043e\u043c\u0438\u043d \u0412.\u0412. \u041b\u0435\u0447\u0435\u043d\u0438\u0435 \u0431\u043e\u043b\u0435\u0437\u043d\u0438 \u0424\u0430\u0431\u0440\u0438. \u041a\u043b\u0438\u043d\u0438\u0447\u0435\u0441\u043a\u0430\u044f \u0444\u0430\u0440\u043c\u0430\u043a\u043e\u043b\u043e\u0433\u0438\u044f \u0438 \u0442\u0435\u0440\u0430\u043f\u0438\u044f. 2016;25(4):63-70 [Moiseev SV, Novikov PI, Fomin VV. Treatment of Fabry disease. Clin Pharmacol Ther. 2016;25(4):63-70 (in Russian)]."},{"key":"ref17","doi-asserted-by":"publisher","DOI":"10.1097\/AJP.0b013e318074c986"},{"key":"ref18","doi-asserted-by":"publisher","DOI":"10.1111\/ijcp.12914"},{"key":"ref19","doi-asserted-by":"publisher","DOI":"10.1016\/j.jbspin.2015.11.001"},{"key":"ref20","doi-asserted-by":"publisher","DOI":"10.1186\/s42358-019-0111-7"},{"key":"ref21","unstructured":"\u041c\u043e\u0438\u0441\u0435\u0435\u0432 \u0421.\u0412., \u041d\u043e\u0432\u0438\u043a\u043e\u0432 \u041f.\u0418., \u0411\u0443\u043b\u0430\u043d\u043e\u0432 \u041d.\u041c., \u0438 \u0434\u0440. \u0411\u043e\u043b\u0435\u0437\u043d\u044c \u0424\u0430\u0431\u0440\u0438 \u0432 \u043f\u0440\u0430\u043a\u0442\u0438\u043a\u0435 \u0440\u0435\u0432\u043c\u0430\u0442\u043e\u043b\u043e\u0433\u0430. \u041a\u043b\u0438\u043d\u0438\u0447\u0435\u0441\u043a\u0430\u044f \u0444\u0430\u0440\u043c\u0430\u043a\u043e\u043b\u043e\u0433\u0438\u044f \u0438 \u0442\u0435\u0440\u0430\u043f\u0438\u044f. 2018;27(1):39-45 [Moiseev SV, Novikov PI, Bulanov NM, et al. Fabry disease in rheumatology practice. 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