Year: 2026
Type: article
Abstract: Alport syndrome (AS) is the most common inherited glomerular disease,1 caused by pathogenic (P) or likely pathogenic (LP) variants in three collagen IV genes: COL4A5, which leads to X-linked AS (XLAS), and COL4A3 and COL4A4, responsible for autosomal dominant AS (ADAS), and autosomal recessive AS (ARAS). Regarding the term ADAS, it is widely recognized that it does not accurately reflect the underlying disease.2 A recent publication based on international consensus has proposed the term Alport Risk-COL4A3 or COL4A4.
Source: Kidney International Reports
Authors: Melissa Pilco-Teran, Diego Toso, Marc Pybus, Miriam Aza-Carmona, Vitoria Paes de Faria, Pedro Lisboa-Gonçalves, Catarina Almeida, Erasmia Sampani, Javier Arias Alcalá, Leonor Fayos de Arizón, Elizabeth Viera, Elena Gomá-Garces, Federico Alberici, Claudia Izzi, Mónica Furlano, Elisabet Ars, Roser Torra
Institutions: Universitat Autònoma de Barcelona, Hospital Del Mar, Puigvert Foundation, Institut de Recerca Sant Pau, Azienda Socio Sanitaria Territoriale degli Spedali Civili di Brescia, University of Brescia, Unidade Local de Saúde de Coimbra, Universidade do Porto, Ippokrateio General Hospital of Thessaloniki, Hospital Universitario Reina Sofía, Hospital Universitario Fundación Jiménez Díaz
Language: English
Subfield: Nephrology
Field: Medicine
Domain: Health Sciences
Open Access status: gold
Estimated APC paid: $2,800
Awards: G1781682637, BÚSQUEDA DE ENFERMEDADES RENALES HEREDITARIAS NO SOSPECHADAS: UNA AGUJA EN UN PAJAR., Estudio genómico y transcriptómico de pacientes con nefropatía no filiada con sospecha de causa monogénica, FEMALE PKD: abordando la poliquistosis renal autosómica dominante desde una perspectiva de género, G7217634033, G7284396075, G7800001373, G9000850061, G9000851283, G9000851790
OpenAlex ID: W7215110525