Congenital anomalies of the kidney and urinary tract (CAKUT) form a group of heterogeneous
disorders that affect the kidneys, ureters and bladder, with frequent asynchronous presentations
and multiple CAKUT associations in the same individual. Urinary tract formation is a complex process,
dependent of the interaction of multiple genes and their sub-product. The same genic alterations
can lead to different molecular expressions and different morphological anomalies. The ureterocele is
a cystic dilation of the distal intramural ureter, resulting in obstruction of urine flow, dilation of the
ureter and renal pelvis and loss of renal function. Two key steps in the urinary tract ontogenesis may be related to ureterocele
development: formation and migration of the ureteric bud and its incorporation in the bladder. This review aims to
describe the morphological, cellular and biochemical steps, as well as the genes involved in the occurrence of this anomaly.
Keywords: CAKUT, Genetic basis, Ureterocele, Urologic ontogenesis.
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