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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.
Type
Published Article
Journal
American Journal of Nephrology
Publisher
S. Karger AG
Publication Date
Dec 10, 2019
Volume
51
Issue
1
Pages
43–53
Identifiers
DOI: 10.1159/000504869
PMID: 31822006
Source
Karger
Keywords
License
Green
External links

Abstract

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.

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