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

Rik Westland, Kirsten Y. Renkema, Nine V. A. M. Knoers*

*Bijbehorende auteur voor dit werk

    OnderzoeksoutputAcademicpeer review

    25 Citaten (Scopus)
    73 Downloads (Pure)


    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 the present understanding of the molecular etiology of CAKUT and the currently available genome diagnostic modalities in the clinical care of patients with CAKUT. Finally, we discuss how clinical integration of findings from large-scale genetic, epigenetic, and gene-environment interaction studies may improve the prognosis of all individuals with CAKUT.

    Originele taal-2English
    Pagina's (van-tot)128-137
    Aantal pagina's10
    TijdschriftClinical Journal of the American Society of Nephrology
    Nummer van het tijdschrift1
    StatusPublished - 7-jan.-2021

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