| Title: |
Utility of Genomic Testing after Renal Biopsy |
| Authors: |
Murray, Susan L.; Dorman, Anthony; Benson, Katherine A.; Connaughton, Dervla M.; Stapleton, Caragh P.; Fennelly, Neil K.; Kennedy, Claire; McDonnell, Ciara A.; Kidd, Kendrah; Cormican, Sarah M.; Ryan, Louise A.; Lavin, Peter; Little, Mark A.; Bleyer, Anthony J.; Doyle, Brendan; Cavalleri, Gianpiero L.; Hildebrandt, Friedhelm; Conlon, Peter J. |
| Source: |
American Journal of Nephrology ; volume 51, issue 1, page 43-53 ; ISSN 0250-8095 1421-9670 |
| Publisher Information: |
S. Karger AG |
| Publication Year: |
2019 |
| Description: |
Background: Renal biopsy is the mainstay of renal pathological diagnosis. Despite sophisticated diagnostic techniques, it is not always possible to make a precise pathological diagnosis. Our aim was to identify a genetic cause of disease in patients who had undergone renal biopsy and determine if genetic testing altered diagnosis or treatment. Methods: Patients with suspected familial kidney disease underwent a variety of next-generation sequencing (NGS) strategies. The subset of these patients who had also undergone native kidney biopsy was identified. Histological specimens were reviewed by a consultant pathologist, and genetic and pathological diagnoses were compared. Results: Seventy-five patients in 47 families underwent genetic sequencing and renal biopsy. Patients were grouped into 5 diagnostic categories based on pathological diagnosis: tubulointerstitial kidney disease (TIKD; n = 18); glomerulonephritis (GN; n = 15); focal segmental glomerulosclerosis and Alport Syndrome (n = 11); thrombotic microangiopathy (TMA; n = 17); and nonspecific pathological changes (n = 14). Thirty-nine patients (52%) in 21 families (45%) received a genetic diagnosis; 13 cases (72%) with TIKD, 4 (27%) with GN, 6 (55%) with focal segmental glomerulosclerosis/Alport syndrome, and 10 (59%) with TMA and 6 cases (43%) with nonspecific features. Genetic testing resulted in changes in understanding of disease mechanism in 21 individuals (54%) in 12 families (57%). Treatment would have been altered in at least 26% of cases (10/39). Conclusions: An accurate genetic diagnosis can result in changes in clinical diagnosis, understanding of pathological mechanism, and treatment. NGS should be considered as a complementary diagnostic technique to kidney biopsy in the evaluation of patients with kidney disease. |
| Document Type: |
article in journal/newspaper |
| Language: |
English |
| DOI: |
10.1159/000504869 |
| Availability: |
https://doi.org/10.1159/000504869; https://www.karger.com/Article/Pdf/504869 |
| Rights: |
https://www.karger.com/Services/SiteLicenses ; https://www.karger.com/Services/SiteLicenses |
| Accession Number: |
edsbas.9F353113 |
| Database: |
BASE |