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. 2020;51(1):43-53.
doi: 10.1159/000504869. Epub 2019 Dec 10.

Utility of Genomic Testing after Renal Biopsy

Susan L Murray  1   2 , Anthony Dorman  3   4 , Katherine A Benson  5 , Dervla M Connaughton  6   7 , Caragh P Stapleton  5 , Neil K Fennelly  3 , Claire Kennedy  6 , Ciara A McDonnell  6 , Kendrah Kidd  8 , Sarah M Cormican  6 , Louise A Ryan  6 , Peter Lavin  9 , Mark A Little  10 , Anthony J Bleyer  8 , Brendan Doyle  3 , Gianpiero L Cavalleri  5 , Friedhelm Hildebrandt  7 , Peter J Conlon  6   11
Affiliations

Utility of Genomic Testing after Renal Biopsy

Susan L Murray et al. Am J Nephrol. 2020.

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.

Keywords: Genetic polymorphism; Chronic kidney disease; Genetics; Pathology; Renal biopsy.

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Conflict of interest statement

Conflict of Interest Statement

None declared.

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