Unexplained Kidney Failure in Young People

About a third of young people with end-stage renal disease (often called kidney failure) with no obvious cause, may have an underlying genetic disorder. Genetic conditions associated with end-stage renal disease in young people are clinically and genetically very heterogeneous. They can show different inheritance patterns, including autosomal dominant, autosomal recessive, and X-linked, and can be caused by variants in genes that cause Alport syndrome, and nephronophthisis (caused in 80% of cases by a recurrent 290 kb homozygous deletion that encompasses NPHP1 gene).