DOI 10.1016/j.ekir.2026.103785
Update on Alport Syndrome: The Report of the 2024 International Workshop on Alport Syndrome.
Аннотация
The 2024 International Workshop on Alport syndrome brought together people living with Alport Syndrome, clinicians, laboratory scientists, and representatives of pharmaceutical companies to present recent data and discuss issues to advance understanding of this inherited condition. The workshop focused on diagnosis and management of Alport syndrome, with particular attention on genetic variant curation, and treatment strategies across the diverse spectrum of Alport syndrome phenotypes, from hematuria to early kidney failure, with or without hearing loss and eye abnormalities. Advances in genetic testing, especially for non-European populations, were discussed alongside challenges in variant interpretation and misclassification. Novel treatment approaches, including gene therapy, and ongoing trials of medications such as sodium-glucose cotransporter 2 inhibitors and endothelin receptor antagonists, offer hope for prolonging kidney function. Collaboration between high- and low-to-middle-income countries was highlighted, addressing disparities in diagnostic capabilities. In addition, the role of patient advocacy and the need for education in nephrology were emphasized. With ongoing research, Alport syndrome is moving closer to being not only actionable but highly treatable through the prevention of kidney failure.
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