Format

Send to

Choose Destination
J Clin Invest. 2018 Jan 2;128(1):4-15. doi: 10.1172/JCI95300. Epub 2018 Jan 2.

Genetic basis of human congenital anomalies of the kidney and urinary tract.

Author information

1
Division of Nephrology, Department of Medicine, Columbia University College of Physicians and Surgeons, New York, New York, USA.
2
Department of Pediatric Nephrology, VU University Medical Center, Amsterdam, Netherlands.
3
Division of Nephrology, Dialysis and Transplantation, Istituto Giannina Gaslini, Genoa, Italy.

Abstract

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.

PMID:
29293093
PMCID:
PMC5749511
DOI:
10.1172/JCI95300
[Indexed for MEDLINE]
Free PMC Article

Supplemental Content

Full text links

Icon for American Society for Clinical Investigation Icon for PubMed Central
Loading ...
Support Center