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 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.
| Original language | English |
|---|---|
| Pages (from-to) | 128-137 |
| Number of pages | 10 |
| Journal | Clinical Journal of the American Society of Nephrology |
| Volume | 16 |
| Issue number | 1 |
| DOIs | |
| Publication status | Published - 31 Dec 2020 |
Keywords
- DNA Copy Number Variations
- Epigenesis, Genetic
- Gene-Environment Interaction
- Genetic Counseling
- Genetic Testing
- Genomics
- Humans
- Phenotype
- Precision Medicine
- Urogenital Abnormalities/diagnosis
- Vesico-Ureteral Reflux/diagnosis
Fingerprint
Dive into the research topics of 'Clinical Integration of Genome Diagnostics for Congenital Anomalies of the Kidney and Urinary Tract'. Together they form a unique fingerprint.Cite this
- APA
- Author
- BIBTEX
- Harvard
- Standard
- RIS
- Vancouver