Genetics-first approach improves diagnostics of ESKD patients< 50 years old

R Snoek, RH van Jaarsveld, TQ Nguyen… - Nephrology Dialysis …, 2022 - academic.oup.com
Background Often only chronic kidney disease (CKD) patients with high likelihood of genetic
disease are offered genetic testing. Early genetic testing could obviate the need for kidney …

Clinical utility of genetic testing in early-onset kidney disease: seven genes are the main players

A Domingo-Gallego, M Pybus, G Bullich… - Nephrology Dialysis …, 2022 - academic.oup.com
Background Inherited kidney diseases are one of the leading causes of chronic kidney
disease (CKD) that manifests before the age of 30 years. Precise clinical diagnosis of early …

[HTML][HTML] The underestimated burden of monogenic kidney disease in adults waitlisted for kidney transplantation

E Schrezenmeier, E Kremerskothen, F Halleck… - Genetics in …, 2021 - Elsevier
Purpose Chronic kidney disease (CKD) is a major health-care burden. Increasing evidence
suggests that a considerable proportion of patients are affected by a monogenic kidney …

The clinical utility of genetic testing in the diagnosis and management of adults with chronic kidney disease

NK Dahl, MS Bloom, FT Chebib, D Clark… - Journal of the …, 2023 - journals.lww.com
Background Genetic testing in CKD has recently been shown to have diagnostic utility with
many predicted implications for clinical management, but its effect on management has not …

[HTML][HTML] The evolving role of diagnostic genomics in kidney transplantation

J Soraru, A Chakera, N Isbel… - Kidney International …, 2022 - Elsevier
Monogenic forms of heritable kidney disease account for a significant proportion of chronic
kidney disease (CKD) across both pediatric and adult patient populations and up to 11% of …

Genetic kidney diseases as an underrecognized cause of chronic kidney disease: the key role of international registry reports

R Torra, M Furlano, A Ortiz, E Ars - Clinical kidney journal, 2021 - academic.oup.com
Inherited kidney diseases (IKDs) are among the leading causes of early-onset chronic
kidney disease (CKD) and are responsible for at least 10–15% of cases of kidney …

[PDF][PDF] Targeted broad-based genetic testing by next-generation sequencing informs diagnosis and facilitates management in patients with kidney diseases

MA Mansilla, RR Sompallae… - Nephrology Dialysis …, 2021 - academic.oup.com
Background The clinical diagnosis of genetic renal diseases may be limited by the
overlapping spectrum of manifestations between diseases or by the advancement of …

Genetic testing in the diagnosis of chronic kidney disease: recommendations for clinical practice

N Knoers, C Antignac, C Bergmann… - Nephrology Dialysis …, 2022 - academic.oup.com
The overall diagnostic yield of massively parallel sequencing–based tests in patients with
chronic kidney disease (CKD) is 30% for paediatric cases and 6–30% for adult cases. These …

[HTML][HTML] The utility of a genetic kidney disease clinic employing a broad range of genomic testing platforms: experience of the Irish Kidney Gene Project

EAE Elhassan, SL Murray, DM Connaughton… - Journal of …, 2022 - Springer
Methods In this prospective cohort study, we undertook genetic testing in adults with
suspected GKD according to prespecified criteria. Over 7 years, patients were referred from …

[HTML][HTML] Emerging role of clinical genetics in CKD

P Devarajan, GM Chertow, K Susztak, A Levin… - Kidney Medicine, 2022 - Elsevier
Chronic kidney disease (CKD) afflicts 15% of adults in the United States, of whom 25% have
a family history. Genetic testing is supportive in identifying and possibly confirming …