Alport syndrome articles from across Nature Portfolio

Here, the authors discuss explanations for missing disease-causing variants in Alport syndrome, how clinicians and laboratories might manage missing variants and how to care for patients when a clinical suspicion of Alport syndrome exists but no disease-causing variant has been identified.

The development of a kidney organoid model from induced pluripotent stem cells (iPSCs) recapitulates collagen composition from mild and severe cases of Alport syndrome, establishing a kidney organoid model aiding drug discovery.

Early diagnosis of rare kidney diseases has profound implications for patients in terms of access to treatment, disease trajectory and the identification of affected relatives. The innovative and collaborative approach taken by the global Alport community has delivered a sustainable global network that has advanced treatments and knowledge and offers insights that are relevant to the entire nephrology community.

Proper glomerular basement membrane (GBM) structure and function are required for appropriate glomerular filtration and abnormalities in the α3α4α5 (α345) network of collagen IV — a GBM component — can lead to disease. New insights into the mechanisms underlying α345 hexamer assembly and function from genetic and structural data identify possible targets for therapeutic modulation.