Utility of Genomic Testing after Renal Biopsy.

Autor:	Murray SL; Department of Nephrology and Transplantation, Beaumont Hospital, Dublin, Ireland, susanmurray@beaumont.ie.; Department of Medicine, Royal College of Surgeons in Ireland, Dublin, Ireland, susanmurray@beaumont.ie., Dorman A; Department of Pathology, Beaumont Hospital, Dublin, Ireland.; Department of Pathology, Royal College of Surgeons in Ireland, Dublin, Ireland., Benson KA; Department of Molecular and Cellular Therapeutics, Royal College of Surgeons in Ireland, Dublin, Ireland., Connaughton DM; Department of Nephrology and Transplantation, Beaumont Hospital, Dublin, Ireland.; Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA., Stapleton CP; Department of Molecular and Cellular Therapeutics, Royal College of Surgeons in Ireland, Dublin, Ireland., Fennelly NK; Department of Pathology, Beaumont Hospital, Dublin, Ireland., Kennedy C; Department of Nephrology and Transplantation, Beaumont Hospital, Dublin, Ireland., McDonnell CA; Department of Nephrology and Transplantation, Beaumont Hospital, Dublin, Ireland., Kidd K; Section on Nephrology, Wake Forest School of Medicine, Winston-Salem, North Carolina, USA., Cormican SM; Department of Nephrology and Transplantation, Beaumont Hospital, Dublin, Ireland., Ryan LA; Department of Nephrology and Transplantation, Beaumont Hospital, Dublin, Ireland., Lavin P; Department of Nephrology, Tallaght Hospital, Dublin, Ireland., Little MA; Trinity Health Kidney Centre, Trinity Translational Medicine Institute, Trinity College Dublin, Dublin, Ireland., Bleyer AJ; Section on Nephrology, Wake Forest School of Medicine, Winston-Salem, North Carolina, USA., Doyle B; Department of Pathology, Beaumont Hospital, Dublin, Ireland., Cavalleri GL; Department of Molecular and Cellular Therapeutics, Royal College of Surgeons in Ireland, Dublin, Ireland., Hildebrandt F; Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA., Conlon PJ; Department of Nephrology and Transplantation, Beaumont Hospital, Dublin, Ireland.; Department of Medicine, Royal College of Surgeons in Ireland, Dublin, Ireland.
Jazyk:	angličtina
Zdroj:	American journal of nephrology [Am J Nephrol] 2020; Vol. 51 (1), pp. 43-53. Date of Electronic Publication: 2019 Dec 10.
DOI:	10.1159/000504869
Abstrakt:	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. (© 2019 S. Karger AG, Basel.)
Databáze:	MEDLINE
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