Clinical Integration of Genome Diagnostics for Congenital Anomalies of the Kidney and Urinary Tract.

ABSTRACT: Revolutions in genetics, epigenetics, and bioinformatics are currently changing the outline of diagnostics and clinical medicine. From a nephrologist's perspective, individuals with congenital anomalies of the kidney and urinary tract (CAKUT) are an important patient category: not only is CAKUT the predominant cause of kidney failure in children and young adults, but the strong phenotypic and genotypic heterogeneity of kidney and urinary tract malformations has hampered standardization of clinical decision making until now. However, patients with CAKUT may benefit from precision medicine, including an integrated diagnostics trajectory, genetic counseling, and personalized management to improve clinical outcomes of developmental kidney and urinary tract defects. In this review, we discuss t

SUBMITTER: Westland R 

PROVIDER: S-EPMC7792653 | biostudies-literature | 2020 Dec

REPOSITORIES: biostudies-literature