Genetic studies over the past few years have led to the discovery that a monogenic cause of disease can be detected in ∼20% of individuals with early-onset chronic kidney disease (CKD). In this Review, Vivante and Hildebrandt discuss some of the known single-gene causes of early-onset CKD and the implication of next-generation sequencing for genetic diagnosis. They describe how the discovery of novel causative genes has led to opportunities for delineating the pathomechanisms of disease and potential treatment approaches.
- Asaf Vivante
- Friedhelm Hildebrandt
