Value of renal gene panel diagnostics in adults waiting for kidney transplantation due to undetermined end-stage renal disease
| Autor: | Rami Abou Jamra, Ria Schönauer, Timo Wagner, Anette Bachmann, Carsten Bergmann, Jan Halbritter, Johannes Münch, Tom H. Lindner, Julia Hentschel, Daniel Seehofer, Isabel Ottlewski, Antje Weimann |
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| Rok vydání: | 2018 |
| Předmět: |
0301 basic medicine
Adult Male medicine.medical_specialty Thrombotic microangiopathy Adolescent Waiting Lists Biopsy DNA Mutational Analysis 030232 urology & nephrology Autosomal dominant polycystic kidney disease Context (language use) urologic and male genital diseases Kidney End stage renal disease 03 medical and health sciences 0302 clinical medicine Focal segmental glomerulosclerosis Internal medicine medicine Humans Genetic Testing Kidney transplantation business.industry Middle Aged medicine.disease Polycystic Kidney Autosomal Dominant Kidney Transplantation Transplantation 030104 developmental biology Nephrology Preoperative Period Feasibility Studies Kidney Failure Chronic Female business Nephrosclerosis Biomarkers |
| Zdroj: | Kidney international. 96(1) |
| ISSN: | 1523-1755 |
| Popis: | End-stage renal disease (ESRD) of undetermined etiology is highly prevalent and constitutes a significant clinical challenge, particularly in the context of kidney transplantation (KT). Despite the identification of numerous rare hereditary nephropathies over the last few decades, patients with undetermined ESRD are not being systematically investigated for rare genetic causes in clinical practice. To address this, we utilized mutation analysis in patients on the kidney transplant waitlist and scrutinized underlying renal diagnoses of 142 patients in a single center KT-waitlist. This cohort was stratified into 85 cases of determined and 57 cases of undetermined ESRD. The latter patients were analyzed by a renal gene panel for mutations in 209 genes associated with ESRD. The most likely genetic diagnoses in 12% of the tested individuals with undetermined ESRD were established. All of these patients showed mutations in genes encoding components of the glomerular filtration barrier. Taken together, hereditary nephropathies, including autosomal dominant polycystic kidney disease, were identified in 35 of the 142 patients of the waitlist cohort. By significantly increasing the proportion of hereditary diagnoses from 29 to 35 patients, the rate of undetermined ESRD significantly decreased from 57 to 51 patients. This study demonstrates the beneficial use of genetic diagnostics in significantly unraveling undetermined ESRD cases prior to KT. Thus, in the absence of renal histology or the presence of unspecific histological conditions, such as hypertensive nephrosclerosis, focal segmental glomerulosclerosis or thrombotic microangiopathy, genetic analysis may provide a robust and specific renal diagnosis and allow for optimizing pre- and post-KT management. |
| Databáze: | OpenAIRE |
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