Diagnosis, management and treatment of the Alport syndrome - 2024 guideline on behalf of ERKNet, ERA and ESPN
The 2024 ERKNet/ERA/ESPN guideline establishes joint COL4A3/4/5 genetic testing as the key diagnostic test for Alport syndrome and confirms early renin-angiotensin system blockade as standard-of-care therapy.
Background
Glomerular disease from genetic defects in the COL4A3/4/5 genes, including classical Alport syndrome, is the second most common hereditary kidney disease, characterized by persistent haematuria that can progress to kidney replacement therapy and is frequently associated with sensorineural deafness and occasionally ocular anomalies. Diagnosis and management are challenging because of phenotypic heterogeneity, multiple modes of inheritance, variable expressivity and penetrance, and scarce clinical trial data, especially in children.
Key recommendations
Developed jointly by ERKNet, ERA (Genes & Kidney) and ESPN, the guideline used a multidisciplinary expert panel that performed a systematic review of 21 clinically relevant PICO questions and formally graded recommendations at a consensus meeting with patient input. Joint analysis of the COL4A3/4/5 genes is recommended as the key diagnostic test during initial evaluation of 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, and SGLT2 inhibitors may be added in adults with proteinuria and chronic kidney disease.
Clinical implications
The guideline shifts Alport diagnosis toward upfront genetics and reinforces early initiation of RAS blockade to slow progression. It also advises that relatives carrying heterozygous COL4A3/4/5 variants should be considered only as a last resort for living kidney donation, given their own risk of kidney failure.
Category
Transplant
Source
Nephrology Dialysis Transplantation
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