TY - JOUR
T1 - Genetic basis of human congenital anomalies of the kidney and urinary tract
AU - Sanna-Cherchi, Simone
AU - Westland, Rik
AU - Ghiggeri, Gian Marco
AU - Gharavi, Ali G.
PY - 2018
Y1 - 2018
N2 - The clinical spectrum of congenital anomalies of the kidney and urinary tract (CAKUT) encompasses a common birth defect in humans that has significant impact on long-term patient survival. Overall, data indicate that approximately 20% of patients may have a genetic disorder that is usually not detected based on standard clinical evaluation, implicating many different mutational mechanisms and pathogenic pathways. In particular, 10% to 15% of CAKUT patients harbor an unsuspected genomic disorder that increases risk of neurocognitive impairment and whose early recognition can impact clinical care. The emergence of high-throughput genomic technologies is expected to provide insight into the common and rare genetic determinants of diseases and offer opportunities for early diagnosis with genetic testing.
AB - The clinical spectrum of congenital anomalies of the kidney and urinary tract (CAKUT) encompasses a common birth defect in humans that has significant impact on long-term patient survival. Overall, data indicate that approximately 20% of patients may have a genetic disorder that is usually not detected based on standard clinical evaluation, implicating many different mutational mechanisms and pathogenic pathways. In particular, 10% to 15% of CAKUT patients harbor an unsuspected genomic disorder that increases risk of neurocognitive impairment and whose early recognition can impact clinical care. The emergence of high-throughput genomic technologies is expected to provide insight into the common and rare genetic determinants of diseases and offer opportunities for early diagnosis with genetic testing.
UR - https://www.scopus.com/inward/record.uri?partnerID=HzOxMe3b&scp=85040181414&origin=inward
UR - https://www.ncbi.nlm.nih.gov/pubmed/29293093
U2 - https://doi.org/10.1172/JCI95300
DO - https://doi.org/10.1172/JCI95300
M3 - Review article
C2 - 29293093
SN - 0021-9738
VL - 128
SP - 4
EP - 15
JO - Journal of clinical investigation
JF - Journal of clinical investigation
IS - 1
ER -