%0 Generic
%A S.L., Murray
%A A., Dorman
%A K.A., Benson
%A D.M., Connaughton
%A C.P., Stapleton
%A N.K., Fennelly
%A C., Kennedy
%A C.A., McDonnell
%A K., Kidd
%A S.M., Cormican
%A L.A., Ryan
%A P., Lavin
%A M.A., Little
%A A.J., Bleyer
%A B., Doyle
%A G.L., Cavalleri
%A F., Hildebrandt
%A P.J., Conlon
%D 2019
%T Supplementary Material for: Utility of Genomic Testing after Renal Biopsy
%U https://karger.figshare.com/articles/dataset/Supplementary_Material_for_Utility_of_Genomic_Testing_after_Renal_Biopsy/11346890
%R 10.6084/m9.figshare.11346890.v1
%2 https://karger.figshare.com/ndownloader/files/20135234
%K Renal biopsy
%K Pathology
%K Chronic kidney disease
%K Genetics
%K Genetic polymorphism
%X 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.
%I Karger Publishers