Congenital anomalies of kidney and urinary tract (CAKUT) are a wide group of disorders involving altered nephron formation, abnormal embryonic ascent of the kidney, and alterations in the development of the collecting system. The most frequent characteristic is urinary tract dilation (about 28%). Many CAKUT are associated with multi-organ syndromes, but most of them are observed in non-syndromic patients. There is a monogenic cause in up to 18% of
CAKUT patients, usually following an autosomal dominant pattern of inheritance.
The diagnosis can be challenging due to the phenotypic and genotypic heterogeneity and incomplete penetrance observed in CAKUT.
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