Genomic testing results evaluated by a team of Mayo Clinic researchers, coupled with the latest research techniques, provided a definitive diagnosis for 30.7% of families with unexplained chronic kidney disease or stones, as reported in a 2021 study published in Kidney Medicine, a Journal of the National Kidney Foundation.
The study obtained the highest diagnostic yield in people with tubulointerstitial diseases at 53.3%, followed by congenital anomalies of the kidney and urological tract, 33.3%; glomerular 31%; cysts 26.7%; stones 25%; and others, 15.4%. A further 12.3% of patients had variants of interest.
"Despite employing conventional biochemical, imaging, and biopsy data, a significant proportion of chronic kidney disease patients do not obtain a firm diagnosis," says Filippo Pinto e Vairo, M.D., Ph.D., a Mayo Clinic clinical geneticist and lead author of the study. "A precise diagnosis may lead to lifestyle changes, therapy and clinical management changes, influence family planning, inform the selection of living donors, and improve knowledge about the disease."
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