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 …

The genetics of common kidney disease: a pathway toward clinical relevance

PE Drawz, JR Sedor - Nature Reviews Nephrology, 2011 - nature.com
Genome-wide association studies (GWASs) have advanced our understanding of the
genetic basis for common renal diseases, including chronic kidney disease (CKD) and …

[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 …

Genetics of kidney disease: the unexpected role of rare disorders

MD Elliott, HM Rasouly… - Annual Review of Medicine, 2023 - annualreviews.org
Hundreds of different genetic causes of chronic kidney disease are now recognized, and
while individually rare, taken together they are significant contributors to both adult and …

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 …

The expanding phenotypic spectra of kidney diseases: insights from genetic studies

MF Stokman, KY Renkema, RH Giles… - Nature Reviews …, 2016 - nature.com
Next-generation sequencing (NGS) has led to the identification of previously unrecognized
phenotypes associated with classic kidney disease genes. In addition to improving …

Exome-based rare-variant analyses in CKD

S Cameron-Christie, CJ Wolock… - Journal of the …, 2019 - journals.lww.com
Background Studies have identified many common genetic associations that influence renal
function and all-cause CKD, but these explain only a small fraction of variance in these traits …

The genetic architecture of kidney disease

MR Pollak, DJ Friedman - … Journal of the American Society of …, 2020 - journals.lww.com
The kidney is subject to a wide range of abnormalities, many of which have a significant
hereditable component. Next generation sequencing is increasingly bringing the genetic …

[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 …