{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,27]],"date-time":"2026-09-27T13:24:05Z","timestamp":1790515445248,"version":"4.1.0"},"reference-count":104,"publisher":"MDPI AG","issue":"20","license":[{"start":{"date-parts":[[2021,10,14]],"date-time":"2021-10-14T00:00:00Z","timestamp":1634169600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100004587","name":"Instituto de Salud Carlos III","doi-asserted-by":"publisher","award":["PI15\/01467"],"award-info":[{"award-number":["PI15\/01467"]}],"id":[{"id":"10.13039\/501100004587","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100004587","name":"Instituto de Salud Carlos III","doi-asserted-by":"publisher","award":["PI18\/00378"],"award-info":[{"award-number":["PI18\/00378"]}],"id":[{"id":"10.13039\/501100004587","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100010801","name":"Xunta de Galicia","doi-asserted-by":"publisher","award":["IN607B-2016\/020"],"award-info":[{"award-number":["IN607B-2016\/020"]}],"id":[{"id":"10.13039\/501100010801","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100010801","name":"Xunta de Galicia","doi-asserted-by":"publisher","award":["ED481A-2020\/204"],"award-info":[{"award-number":["ED481A-2020\/204"]}],"id":[{"id":"10.13039\/501100010801","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["IJMS"],"abstract":"<jats:p>Alport syndrome is a genetic and hereditary disease, caused by mutations in the type IV collagen genes COL4A3, COL4A4 and COL4A5, that affects the glomerular basement membrane of the kidney. It is a rare disease with an underestimated prevalence. Genetic analysis of population cohorts has revealed that it is the second most common inherited kidney disease after polycystic kidney disease. Renal involvement is the main manifestation, although it may have associated extrarenal manifestations such as hearing loss or ocular problems. The degree of expression of the disease changes according to the gene affected and other factors, known or yet to be known. The pathophysiology is not yet fully understood, although some receptors, pathways or molecules are known to be linked to the disease. There is also no specific treatment for Alport syndrome; the most commonly used are renin\u2013angiotensin\u2013aldosterone system inhibitors. In recent years, diagnosis has come a long way, thanks to advances in DNA sequencing technologies such as next-generation sequencing (NGS). Further research at the genetic and molecular levels in the future will complete the partial vision of the pathophysiological mechanism that we have, and will allow us to better understand what is happening and how to solve it.<\/jats:p>","DOI":"10.3390\/ijms222011063","type":"journal-article","created":{"date-parts":[[2021,10,14]],"date-time":"2021-10-14T09:10:49Z","timestamp":1634202649000},"page":"11063","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":26,"title":["Molecular Basis, Diagnostic Challenges and Therapeutic Approaches of Alport Syndrome: A Primer for Clinicians"],"prefix":"10.3390","volume":"22","author":[{"given":"Raquel","family":"Mart\u00ednez-Pulleiro","sequence":"first","affiliation":[{"name":"Grupo de Xen\u00e9tica e Biolox\u00eda do Desenvolvemento das Enfermidades Renais, Laboratorio de Nefrolox\u00eda (No. 11), Instituto de Investigaci\u00f3n Sanitaria de Santiago (IDIS), Complexo Hospitalario de Santiago de Compostela (CHUS), 15706 Santiago de Compostela, Spain"},{"name":"Grupo de Medicina Xen\u00f3mica (GMX), 15706 Santiago de Compostela, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6416-3480","authenticated-orcid":false,"given":"Mar\u00eda","family":"Garc\u00eda-Murias","sequence":"additional","affiliation":[{"name":"Grupo de Xen\u00e9tica e Biolox\u00eda do Desenvolvemento das Enfermidades Renais, Laboratorio de Nefrolox\u00eda (No. 11), Instituto de Investigaci\u00f3n Sanitaria de Santiago (IDIS), Complexo Hospitalario de Santiago de Compostela (CHUS), 15706 Santiago de Compostela, Spain"},{"name":"Grupo de Medicina Xen\u00f3mica (GMX), 15706 Santiago de Compostela, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Manuel","family":"Fidalgo-D\u00edaz","sequence":"additional","affiliation":[{"name":"Departamento de Nefrolog\u00eda, Complexo Hospitalario Universitario de Santiago (CHUS), 15706 Santiago de Compostela, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Miguel \u00c1ngel","family":"Garc\u00eda-Gonz\u00e1lez","sequence":"additional","affiliation":[{"name":"Grupo de Xen\u00e9tica e Biolox\u00eda do Desenvolvemento das Enfermidades Renais, Laboratorio de Nefrolox\u00eda (No. 11), Instituto de Investigaci\u00f3n Sanitaria de Santiago (IDIS), Complexo Hospitalario de Santiago de Compostela (CHUS), 15706 Santiago de Compostela, Spain"},{"name":"Grupo de Medicina Xen\u00f3mica (GMX), 15706 Santiago de Compostela, Spain"},{"name":"Fundaci\u00f3n P\u00fablica Galega de Medicina Xen\u00f3mica-SERGAS, Complexo Hospitalario de Santiago de Compostela (CHUS), 15706 Santiago de Compostela, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2021,10,14]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"472","DOI":"10.1038\/nrneph.2016.87","article-title":"The expanding phenotypic spectra of kidney diseases: Insights from genetic studies","volume":"12","author":"Stokman","year":"2016","journal-title":"Nat. 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