TY  - JOUR
JF  - Nephrology Dialysis Transplantation
A1  - Torra, Roser
A1  - Lipska-Zi?tkiewicz, Beata
A1  - Acke, Frederic
A1  - Antignac, Corinne
A1  - Becker, Jan Ulrich
A1  - Cornec-Le Gall, Emilie
A1  - van Eerde, Albertien M
A1  - Feltgen, Nicolas
A1  - Ferrari, Rosella
A1  - Gale, Daniel P
A1  - Gross, Oliver
A1  - Haeberle, Stefanie
A1  - Wlodkowski, Tanja
A1  - Heidet, Laurence
A1  - Lennon, Rachel
A1  - Massella, Laura
A1  - Topaloglu, Rezan
A1  - Pfau, Kristina
A1  - Del Prado Venegas Pizarro, Maria
A1  - Zealey, Heidi
A1  - ERKNet, ERA Genes&Kidney and ESPN WG Hereditary Kidney Disorders
KW  - COL4A3
KW  -  COL4A4
KW  -  COL4A5
KW  -  Alport syndrome
KW  -  collagen IV
KW  -  glomerular basement membrane
KW  -  haematuria
N2  - 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.
ID  - discovery10205790
UR  - https://doi.org/10.1093/ndt/gfae265
PB  - Oxford University Press (OUP)
SN  - 0931-0509
N1  - © The Author(s) 2024. Published by Oxford University Press on behalf of the ERA. This is an Open Access article
distributed under the terms of the Creative Commons Attribution License (https://creativecommons.org/licenses/by/4.0/), which permits
unrestricted reuse, distribution, and reproduction in any medium, provided the original work is properly cited.
TI  - Diagnosis, management and treatment of the Alport syndrome - 2024 guideline on behalf of ERKNet, ERA and ESPN
AV  - public
Y1  - 2024/12/02/
ER  -