The Sant Pau Research Institute (IR Sant Pau) and the Fundació Puigvert, a national and European reference centre in the diagnosis and treatment of rare renal and urogenital diseases, have participated in a decisive step in the management of Alport syndrome with the publication of the first multidisciplinary clinical guideline that integrates a systematic review of the literature, expert multidisciplinary experience, and patient associations.
This tool, recently published in Nephrology Dialysis Transplantation (ERA/Oxford Academic), addresses one of the most common hereditary kidney diseases within its low prevalence at the population level, characterised by haematuria (microscopic blood loss in urine), proteinuria and, in some cases, kidney failure and hearing and vision impairments.
The new guideline stems from the collaboration between experts in nephrology, genetics, ophthalmology, pathology, and otorhinolaryngology, based on an exhaustive bibliographic review combined with data from accumulated clinical experience in both paediatric and adult populations. It provides clear recommendations for monitoring and personalised treatment, integrating patients’ real experiences and needs through the involvement of their associations.
Alport syndrome affects both children and adults and is caused by the presence of abnormal collagen at the renal level. It presents in two forms, depending on its hereditary pattern.
Recently, thanks to advances in genetic diagnosis, we have been able to more accurately identify patients with the dominant variant of Alport syndrome (COL4A3, COL4A4).
Dr Roser Torra Balcells, a nephrologist, expert in Hereditary Kidney Diseases (HKD), Coordinator of Rare Diseases at the Fundació Puigvert, and researcher in the Nephrology group at the Sant Pau Research Institute (IR Sant Pau), has led the development of the clinical guidelines, hosting international experts at the Fundació Puigvert for the consensus meeting. Her expertise has been decisive in consolidating a comprehensive approach that allows for early diagnosis and the best treatment.
Dr Mònica Furlano, also a researcher in the Rare Diseases group at the Fundació Puigvert and in the Nephrology group at IR Sant Pau, highlights: “With this guideline, we aim to improve diagnosis and treatment, as well as open new lines of research to identify the factors involved in disease progression, which we still do not fully understand and need to investigate further.”
Another relevant aspect of this guideline is that it emphasises the essential role of a multidisciplinary approach, integrating various disciplines with the close collaboration of patient associations to ensure that recommendations are practical and adapted to clinical reality. Furthermore, strategies are proposed to avoid unnecessary treatments—such as the indiscriminate use of immunosuppressants—and to minimise exposure to nephrotoxic drugs, thereby ensuring better renal survival and, ultimately, a better quality of life.
With this contribution, the Fundació Puigvert reaffirms its commitment to innovation and excellence in the management of hereditary kidney diseases, consolidating its position as a pioneering centre in integrating research and clinical practice. The publication of this multidisciplinary guideline marks a milestone, as Dr Roser Torra explains: “It is the first comprehensive clinical guideline on Alport syndrome, a condition that is increasingly being diagnosed in our country.”
Torra R, Lipska-Ziętkiewicz B, Acke F, Antignac C, Becker JU, Cornec-Le Gall E, van Eerde AM, Feltgen N, Ferrari R, Gale DP, Gross O, Haeberle S, Wlodkowski T, Heidet L, Lennon R, Massella L, Topaloglu R, Pfau K, Del Prado Venegas Pizarro M, Zealey H, ERKNet, ERA Genes&Kidney and ESPN WG Hereditary Kidney Disorders groups. Diagnosis, management and treatment of the Alport syndrome – 2024 guideline on behalf of ERKNet, ERA and ESPN. Nephrol Dial Transplant 2024. https://doi.org/10.1093/ndt/gfae265.
