The Urinary System

  • Jelena MartinovicEmail author


The development of the kidney and the urinary tract is directed by a highly complex cellular dialog between the ureteric bud and metanephric mesenchyme. Developmental defects are the result of disruptions in this reciprocal signaling. The complexity of signaling pathways in nephrogenesis explains the locus heterogeneity of congenital anomalies of the kidney and urinary tract (CAKUT). However, under this single label acronym lie different phenotypes, which present an incomplete penetrance and variable clinical presentation during the fetal period, making uniform and extended data collections difficult and introducing potential selection bias. There is not only clinical but also genetic support to the use of CAKUT, because it is well known that mutations in a single gene have pleiotropic effects on the development of the urogenital tract. The precise analysis of phenotypes with the establishment of genotype/phenotype correlations remains a gold standard for taking full advantage from genomics. The standard definitions of patients’ phenotypes are mandatory for the data exchange: semantic standards ensure that the terms used consistently correlate with described patient characteristics.


Kidney Renal development Renal disease Congenital anomalies of the kidney and urinary tract CAKUT Polycystic kidney diseases PKD Renal histology Renal genetics Teratogens Hereditary nephropathies 


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Copyright information

© Springer International Publishing 2015

Authors and Affiliations

  1. 1.Department of Embryo-Fetal PathologyParis-Sud University Group of Schools of Medicine, AP-HP, Antoine Béclère HospitalParisFrance

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