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 …
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 …
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 …
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
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 …
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 …
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
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 …
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 …
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 …
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 …
suspected GKD according to prespecified criteria. Over 7 years, patients were referred from …
[HTML][HTML] Emerging role of clinical genetics in CKD
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 …
a family history. Genetic testing is supportive in identifying and possibly confirming …