Diagnostic utility of genetic testing in patients undergoing renal biopsy

Autor: Katherine A. Benson, Peter J. Conlon, Margaret Large, Anthony Dorman, Catherine Godson, Brendan Doyle, Eoin P. Brennan, Denise M. Sadlier, Ross Doyle, Gianpiero L. Cavalleri, Susan L. Murray
Rok vydání: 2020
Předmět:
Adult
Male
Research Report
medicine.medical_specialty
stage 1 chronic kidney disease
Biopsy
moderate proteinuria
decreased glomerular filtration rate
heavy proteinuria
Kidney
Cohort Studies
Internal medicine
mild proteinuria
Medicine
Humans
stage 3 chronic kidney disease
Genetic Testing
Renal Insufficiency
Chronic
stage 5 chronic kidney disease
Genetic testing
Aged
medicine.diagnostic_test
business.industry
Diagnostic Tests
Routine
elevated serum creatinine
High-Throughput Nucleotide Sequencing
General Medicine
Genomics
Middle Aged
medicine.disease
hematuria
Cohort
Etiology
Disease Progression
Medical genetics
Female
Renal biopsy
Personalized medicine
stage 2 chronic kidney disease
business
Stage 4 chronic kidney disease
stage 4 chronic kidney disease
acute tubulointerstitial nephritis
glomerulonephritis
Kidney disease
Zdroj: Cold Spring Harbor Molecular Case Studies
ISSN: 2373-2873
Popis: High-throughput DNA testing is becoming established as a standard diagnostic test in the renal clinic. Previously published studies on cohorts of patients with unexplained chronic kidney disease of a suspected genetic aetiology have suggested a diagnostic yield for genomic sequencing of up to 18%. Here we determine the yield of targeted gene panel in a clinically unscreened cohort of patients referred for percutaneous native renal biopsy. Patients who underwent renal biopsy for investigation of chronic kidney disease were sequenced using a genomic sequencing panel covering 227 genes in which variation is known to be associated with monogenic chronic kidney disease (CKD). Candidate disease-causing variants were assessed for pathogenicity using guidelines from the American College for Medical Genetics and Genomics. Fifty CKD patients were recruited and sequenced. A molecular diagnosis was obtained for two patients (4%). A molecular diagnosis is possible using genomic testing in ∼4% of clinically unscreened patients undergoing renal biopsy. Genetic screening may be useful for diagnosis in a subset of CKD patients but is most valuable when applied to patients with suspected heritable forms of kidney disease.
Databáze: OpenAIRE
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