January 17, 2019
1 min read

Whole-exome sequencing identified genetic cause of kidney disease in about one-third of pediatric renal transplant patients

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Whole-exome sequencing identified a genetic cause of kidney disease in nearly one-third of pediatric renal transplant patients, according to a recently published study.

“It has been demonstrated in the past that up to 20% of children with chronic kidney disease have a genetic mutation in a kidney disease-causing gene,” Friedhelm Hildebrandt, MD, told Healio.com/Nephrology. “In our study, we found that almost one-third of children who receive a kidney transplant at Boston Children's Hospital had an underlying genetic cause and that in several patients, identification of this genetic etiology could alter clinical management."

Researchers identified 104 patients who received a kidney transplant at Boston Children’s Hospital between 2007 and 2017. Investigators performed whole-exome sequencing and assessed results for deleterious variants in close to 400 genes that were known to cause chronic kidney disease.

Results showed in 34 of 104 transplant patients, investigators found a genetic cause for CKD. Investigators noted a greater chance of a molecular genetic diagnosis in patients with urinary stone disease and also in patients with renal cystic ciliopathies, steroid-resistant nephrotic syndrome, congenital anomalies of the kidney and urinary tract and chronic glomerulonephritis. In four of nine patients with ESRD of unknown etiology, whole-exome sequencing yielded a molecular diagnosis. There were implications or clinical care for five patients related to whole-exome sequencing molecular genetic diagnosis. – by Monica Jaramillo

Disclosures: The authors report no relevant financial disclosures.