Personalized medicine in chronic kidney disease by detection of monogenic mutations

DM Connaughton, F Hildebrandt - Nephrology Dialysis …, 2020 - academic.oup.com
A large fraction of early-onset chronic kidney disease (CKD) is known to be monogenic in
origin. To date,∼ 450 monogenic (synonymous with single-gene disorders) genes, if …

[HTML][HTML] Genetics in chronic kidney disease: conclusions from a Kidney Disease: Improving Global Outcomes (KDIGO) controversies conference

A Köttgen, E Cornec-Le Gall, J Halbritter, K Kiryluk… - Kidney international, 2022 - Elsevier
Numerous genes for monogenic kidney diseases with classical patterns of inheritance, as
well as genes for complex kidney diseases that manifest in combination with environmental …

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] Monogenic causes of chronic kidney disease in adults

DM Connaughton, C Kennedy, S Shril, N Mann… - Kidney international, 2019 - Elsevier
Approximately 500 monogenic causes of chronic kidney disease (CKD) have been
identified, mainly in pediatric populations. The frequency of monogenic causes among …

[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 …

Exploring the genetic basis of early-onset chronic kidney disease

A Vivante, F Hildebrandt - Nature Reviews Nephrology, 2016 - nature.com
The primary causes of chronic kidney disease (CKD) in children differ from those of CKD in
adults. In the USA the most common diagnostic groups of renal disease that manifest before …

Using population genetics to interrogate the monogenic nephrotic syndrome diagnosis in a case cohort

MG Sampson, CE Gillies, CC Robertson… - Journal of the …, 2016 - journals.lww.com
To maximize clinical benefits of genetic screening of patients with nephrotic syndrome (NS)
to diagnose monogenic causes, reliably distinguishing NS-causing variants from the …

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 …

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 …

Genomic medicine for kidney disease

EE Groopman, HM Rasouly, AG Gharavi - Nature Reviews Nephrology, 2018 - nature.com
Technologies such as next-generation sequencing and chromosomal microarray have
advanced the understanding of the molecular pathogenesis of a variety of renal disorders …