Unknown

Dataset Information

0

Utility of Genomic Testing after Renal Biopsy.


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.

SUBMITTER: Murray SL 

PROVIDER: S-EPMC6957728 | biostudies-literature | 2020

REPOSITORIES: biostudies-literature

altmetric image

Publications


<h4>Background</h4>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.<h4>Methods</h4>Patients with suspected familial kidney disease underwent a variety of next-generation sequencing (NGS) strategies. The subset of th  ...[more]

Similar Datasets

| S-EPMC7552929 | biostudies-literature
| S-EPMC5477355 | biostudies-other
| S-EPMC4538218 | biostudies-other
| S-EPMC5584374 | biostudies-literature
| S-EPMC6721625 | biostudies-literature
| S-EPMC7536406 | biostudies-literature
| S-EPMC9237445 | biostudies-literature
| S-EPMC2305754 | biostudies-other
| S-EPMC5392351 | biostudies-literature
| S-EPMC5411553 | biostudies-literature