About CAKUT

Congenital anomalies of the kidney and urinary tract (CAKUT) are one of the most frequent causes of chronic renal insufficiency and end-stage kidney disease in children in Europe with significant ante- and perinatal mortality in severe bilateral cases. Renal replacement therapy including dialysis and kidney transplantation is indicated in many cases and the socio-economic burden is high.

A high rate of positive family histories for CAKUT suggests an important influence of genetic events in CAKUT pathogenesis. Disease-causing (likely pathogenic and pathogenic) variants in several renal developmental genes have been identified to be causative in a subset of children with CAKUT. However, the detection rate in most genes is low. New strategies involving exome and genome sequencing will improve genetic testing in these children. The result of genetic research in CAKUT have a major impact both for the understanding of the underlying pathophysiology as for the clinical medicine.