[HTML][HTML] Genetic evaluation of living kidney donor candidates: a review and recommendations for best practices

CP Thomas, R Daloul, KL Lentine, R Gohh… - American Journal of …, 2023 - Elsevier
The growing accessibility and falling costs of genetic sequencing techniques has expanded
the utilization of genetic testing in clinical practice. For living kidney donation, genetic …

Review of genetic testing in kidney disease patients: diagnostic yield of single nucleotide variants and copy number variations evaluated across and within kidney …

LR Claus, R Snoek, NVAM Knoers… - American Journal of …, 2022 - Wiley Online Library
Genetic kidney disease comprises a diverse group of disorders. These can roughly be
divided in the phenotype groups congenital anomalies of the kidney and urinary tract …

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 …

Genetic etiologies for chronic kidney disease revealed through next-generation renal gene panel

AJ Bleyer, M Westemeyer, J Xie, MS Bloom… - American journal of …, 2022 - karger.com
Introduction: Chronic kidney disease (CKD) is a major public health issue in the USA.
Identification of monogenic causes of CKD, which are present in∼ 10% of adult cases, can …

[HTML][HTML] Initial experience from a renal genetics clinic demonstrates a distinct role in patient management

CP Thomas, ME Freese, A Ounda, JG Jetton… - Genetics in …, 2020 - Elsevier
Abstract Purpose A Renal Genetics Clinic (RGC) was established to optimize diagnostic
testing, facilitate genetic counseling, and direct clinical management. Methods Retrospective …

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 …

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 …

Regrow or repair: an update on potential regenerative therapies for the kidney

MH Little, BD Humphreys - Journal of the American Society of …, 2022 - journals.lww.com
Fifteen years ago, this journal published a review outlining future options for regenerating
the kidney. At that time, stem cell populations were being identified in multiple tissues, the …

Rare genetic causes of complex kidney and urological diseases

EE Groopman, G Povysil, DB Goldstein… - Nature Reviews …, 2020 - nature.com
Although often considered a single-entity, chronic kidney disease (CKD) comprises many
pathophysiologically distinct disorders that result in persistently abnormal kidney structure …

[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 …