Diagnosis, management and treatment of the Alport syndrome - 2024 guideline on behalf of ERKNet, ERA and ESPN.

Autor:	Torra R; Nephrology Department, Fundació Puigvert, Institut de Recerca Sant Pau (IR-Sant Pau), Departament de Medicina, Universitat Autònoma de Barcelona, RICORS2040, Spain., Lipska-Ziętkiewicz B; Clinical Genetics Unit, Dept. of Biology and Medical Genetics, Medical University of Gdańsk, Poland.; Rare Diseases Centre, Medical University of Gdańsk, Poland., Acke F; Department of Otorhinolaryngology, 1P1, Ghent University / Ghent University Hospital, Ghent, Belgium., Antignac C; Département de Génétique, Institut Imagine (Inserm U1163), Paris, France., Becker JU; Institute of Pathology, University Hospital of Cologne, Cologne, Germany., Gall EC; University Brest, Inserm, UMR 1078, GGB, CHU Brest, Centre de référence MARHEA, Brest, France., van Eerde AM; Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands., Feltgen N; Department of Ophthalmology, University Hospital Basel, Basel, Switzerland., Ferrari R; Italian Association of Alport Syndrome, ERKNet ePAG., Gale DP; Centre for Kidney and Bladder Health, University College London, London, United Kingdom., Gross O; Department of Nephrology and Rheumatology, University Medical Center Göttingen, Göttingen, Germany., Haeberle S; Division of Paediatric Nephrology, Center for Paediatrics and Adolescent Medicine, University Hospital, Heidelberg, Germany., Wlodkowski T; Division of Paediatric Nephrology, Center for Paediatrics and Adolescent Medicine, University Hospital, Heidelberg, Germany., Heidet L; Néphrologie Pédiatrique, Centre de Référence MARHEA, APHP, Hôpital universitaire Necker-Enfants Malades, Paris, France., Lennon R; Department of Paediatric Nephrology, Royal Manchester Children's Hospital, Manchester University Hospitals NHS Foundation Trust, Manchester Academic Health Science Centre, Manchester, UK., Massella L; Division of Nephrology, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy., Topaloglu R; Division of Pediatric Nephrology, Hacettepe University Faculty of Medicine, Ankara, Turkey., Pfau K; Institute of Molecular and Clinical Ophthalmology Basel, Basel, Switzerland., Del Prado Venegas Pizarro M; Otolaryngology-Head and Neck Surgery, Hospital de Sant Pau i la Santa Creu, Instituto de Investigaciones Biomédicas Sant Pau, Universitat Autónoma de Barcelona, Barcelona, Spain., Zealey H; International Alport Syndrome Alliance and Alport UK, ERKNet ePAG.
Jazyk:	angličtina
Zdroj:	Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association [Nephrol Dial Transplant] 2024 Dec 02. Date of Electronic Publication: 2024 Dec 02.
DOI:	10.1093/ndt/gfae265
Abstrakt:	Glomerular nephropathy resulting from the genetic defects in COL4A3/4/5 genes including the classical Alport syndrome (AS) is the second commonest hereditary kidney disease characterized by persistent haematuria progressing to the need of kidney replacement therapy, frequently associated with sensorineural deafness, and occasionally with ocular anomalies. Diagnosis and management of COL4A3/4/5 glomerulopathy is a great challenge due to its phenotypic heterogeneity, multiple modes of inheritance, variable expressivity, and disease penetrance of individual variants as well as imperfect prognostic and progression factors and scarce and limited clinical trials, especially in children. As a joint initiative of the European Rare Kidney disease reference Network (ERKNet), European Renal Association (ERA Genes&Kidney) and European Society for Paediatric Nephrology (ESPN) Working Group Hereditary Kidney Disorders, a team of experts including adult and paediatric nephrologists, kidney geneticists, audiologists, ophthalmologists and a kidney pathologist were selected to perform a systematic literature review on 21 clinically relevant PICO (Patient or Population covered, Intervention, Comparator, Outcome) questions. The experts formulated recommendations and formally graded them at a consensus meeting with input from patient representatives and a voting panel of nephrologists representing all regions of the world. Genetic diagnostics comprising joint analysis of COL4A3/4/5 genes is the key diagnostic test already during the initial evaluation of an individual presenting with persistent haematuria, proteinuria, kidney failure of unknown origin, focal segmental sclerosis of unknown origin and possibly cystic kidney disease. Early renin-angiotensin system blockade is the standard of care therapy; sodium-glucose cotransporter-2 inhibitors may be added in adults with proteinuria and chronic kidney disease. Relatives with heterozygous COL4A3/4/5 variants should only be considered as the last possible resource for living kidney donation. This guideline provides guidance for the diagnosis and management of individuals with pathogenic variants in COL4A3/4/5 genes. (© The Author(s) 2024. Published by Oxford University Press on behalf of the ERA.)
Databáze:	MEDLINE
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