Exome sequencing as a diagnostic tool in chronic kidney disease: ready for clinical application?
Curr Opin Nephrol Hypertens
; 29(6): 608-612, 2020 11.
Article
in En
| MEDLINE
| ID: mdl-32889981
ABSTRACT
PURPOSE OF REVIEW Patients who develop chronic kidney disease at an early age, or from an uncertain cause, may benefit from genomic sequencing approaches to define causative mutations and inform subsequent management. RECENT FINDINGS:
Whole-exome sequencing has been used to investigate the molecular genetic variants associated with chronic kidney disease in both specific phenotypes such as steroid-resistant nephrotic syndrome, and in large cohorts of patients not selected for a certain diagnosis. These studies have shown that whole-exome sequencing is able to find a genetic variant in a significant number of patients. Often these variants may reclassify the diagnosis, the variants may have ramifications for the patient's management, and some variants may be previously undescribed in the literature.SUMMARY:
Whole-exome sequencing is likely to become widely used in the investigation of chronic kidney disease, especially in certain phenotypes.
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Renal Insufficiency, Chronic
/
Exome Sequencing
Type of study:
Diagnostic_studies
Limits:
Humans
/
Male
Language:
En
Journal:
Curr Opin Nephrol Hypertens
Journal subject:
ANGIOLOGIA
/
NEFROLOGIA
Year:
2020
Document type:
Article
Affiliation country:
United kingdom