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Genetic testing may identify genes that cause 10% of CKD cases
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According to a study published in The New England Journal of Medicine, exome sequencing in a cohort of over 3,000 patients demonstrated genetic causes of chronic kidney disease in about 10% of cases and genetic testing may aid in the treatment of these patients.
“Our study shows that genetic testing can be used to personalize the diagnosis and management of kidney disease, and that nephrologists should consider incorporating it
into the diagnostic workup for these patients,” Ali Gharavi, MD, chief of nephrology at Columbia University Vagelos College of Physicians and Surgeons, and a co-senior author of the study, said in a release from Columbia University Irving Medical Center.
Gharavi and colleagues performed an exome sequencing and diagnostic analysis of 3,315 patients with CKD. Investigators evaluated the diagnostic yield in patients with available clinical data, clinical implications for diagnostic and medically relevant findings.
Overall, 3,037 patients were aged at least 21 years and 1,179 patients were of self-identified non-European ancestry. Of 3,315 patients, investigators detected diagnostic variants in 307 patients, which included 66 different monogenetic disorders. Investigators noted 39 of the disorders detected were found in one patient.
According to the researchers, diagnostic variants were seen across congenital or cystic renal disease and neuropathy of unknown origin. Of the 2,187 patients who were evaluated, 34 patients had genetic findings for medically actionable disorders. Investigators noted although the genetic findings were not related to their neuropathy, they would lead to subspecialty referral and inform renal management. – by Monica Jaramillo
Disclosures: Gharavi reports no relevant financial disclosures. Please see the full study for a list of all other authors’ relevant financial disclosures.
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