Personalized medicine in chronic kidney disease by detection of monogenic mutations

Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association
Dervla M Connaughton, Friedhelm Hildebrandt

Abstract

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 mutated, are known to cause CKD, explaining ∼30% of cases in pediatric cohorts and ∼5-30% in adult cohorts. However, there are likely hundreds of additional monogenic nephropathy genes that may be revealed by whole-exome or -genome sequencing. Although the discovery of novel CKD-causing genes has accelerated, significant challenges in adult populations remain due to broad phenotypic heterogeneity together with variable expressivity, incomplete penetrance or age-related penetrance of these genes. Here we give an overview of the currently known monogenic causes for human CKD. We also describe how next-generation sequencing facilitates rapid molecular genetic diagnostics in individuals with suspected genetic kidney disease. In an era of precision medicine, understanding the utility of genetic testing in individuals with a suspected inherited nephropathy has important diagnostic and prognostic implications. Detection of monogenic causes of CKD permits molecular genetic diagnosis for patients and families and opens avenues for personalized treatment strategies for ...Continue Reading

References

Sep 24, 2005·American Journal of Nephrology·Barry I FreedmanWilliam M McClellan
Sep 15, 2006·Journal of the American Society of Nephrology : JASN·Stefanie WeberRemi Salomon
Dec 19, 2009·Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association·Guy H Neild
Apr 13, 2010·Lancet·Friedhelm Hildebrandt
Jul 3, 2010·Clinical Journal of the American Society of Nephrology : CJASN·Marina NorisGiuseppe Remuzzi
Sep 3, 2010·Seminars in Nephrology·Anthony J BleyerStanislav Kmoch
Mar 19, 2011·Clinical Journal of the American Society of Nephrology : CJASN·Sheila SantínElisabet Ars
Apr 22, 2011·The New England Journal of Medicine·Friedhelm HildebrandtNicholas Katsanis
Aug 27, 2011·Clinical Journal of the American Society of Nephrology : CJASN·Guillaume BolléeBertrand Knebelmann
Apr 14, 2012·European Urology·Charles D ScalesUNKNOWN Urologic Diseases in America Project
May 25, 2012·Journal of Human Genetics·Dineke WestraLambert P van den Heuvel
Nov 20, 2012·American Journal of Human Genetics·Simone Sanna-CherchiAli G Gharavi
Apr 2, 2013·Nature Genetics·Mathieu LemaireRichard P Lifton
Mar 22, 2014·American Journal of Kidney Diseases : the Official Journal of the National Kidney Foundation·Lesley A InkerHarold I Feldman
Apr 5, 2014·Journal of the American Society of Nephrology : JASN·Stefan KohlFriedhelm Hildebrandt
May 24, 2014·Journal of the American Society of Nephrology : JASN·Vincent MorinièreLaurence Heidet
Aug 6, 2014·Clinical Journal of the American Society of Nephrology : CJASN·Rannveig SkrunesBjørn Egil Vikse
Aug 29, 2014·Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association·Elke WühlKitty J Jager
Oct 10, 2014·Journal of the American Society of Nephrology : JASN·Jan HalbritterFriedhelm Hildebrandt
Oct 29, 2014·Journal of the American Society of Nephrology : JASN·Carolin E SadowskiFriedhelm Hildebrandt
Sep 9, 2015·Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association·Christine GastSarah Ennis
Nov 5, 2015·Journal of the American Society of Nephrology : JASN·Matthew G SampsonHyun Min Kang
Jan 12, 2016·Nature Reviews. Nephrology·Asaf Vivante, Friedhelm Hildebrandt
Jan 21, 2016·Clinical Journal of the American Society of Nephrology : CJASN·Daniela Anne BraunFriedhelm Hildebrandt
Oct 30, 2016·Cold Spring Harbor Perspectives in Biology·Daniela A Braun, Friedhelm Hildebrandt
Nov 30, 2016·Genome Biology·Rocio Acuna-HidalgoAlexander Hoischen
Sep 19, 2017·Pediatric Nephrology : Journal of the International Pediatric Nephrology Association·Weizhen TanFriedhelm Hildebrandt
Nov 12, 2017·Clinical Journal of the American Society of Nephrology : CJASN·Jillian K WarejkoFriedhelm Hildebrandt
Dec 6, 2017·Annals of Internal Medicine·Sneh LataAli G Gharavi
Apr 15, 2018·Journal of the American Society of Nephrology : JASN·Rozemarijn SnoekAlbertien M van Eerde
May 23, 2018·American Journal of Kidney Diseases : the Official Journal of the National Kidney Foundation·Nadia AyasrehRoser Torra
Jul 4, 2018·Journal of the American Society of Nephrology : JASN·Martina ŽivnáStanislav Kmoch
Aug 26, 2018·Journal of the American Society of Nephrology : JASN·Amelie T van der VenFriedhelm Hildebrandt
Oct 9, 2018·Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association·David SchapiroFriedhelm Hildebrandt
Oct 24, 2018·Kidney International·Olivier GribouvalAude Servais

❮ Previous
Next ❯

Citations

Dec 7, 2019·Pediatric Nephrology : Journal of the International Pediatric Nephrology Association·Fatima TokhmafshanPaul R Goodyer
Feb 15, 2020·Indian Journal of Pediatrics·Veronica AroraIshwar Chander Verma
Jun 6, 2020·Pediatric Nephrology : Journal of the International Pediatric Nephrology Association·Michal Stern-ZimmerAsaf Vivante
Aug 23, 2020·International Journal of Molecular Sciences·Michele ProvenzanoMichele Andreucci
Jul 11, 2020·Clinical Journal of the American Society of Nephrology : CJASN·Enrico CocchiAli G Gharavi
Jun 24, 2019·Human Genetics·Thomas M KitzlerFriedhelm Hildebrandt
Aug 19, 2020·Nature Reviews. Nephrology·Emily E GroopmanAli G Gharavi
Sep 29, 2020·AACE Clinical Case Reports·Carmen BustamanteSupamit Ukarapong
Dec 21, 2020·Trends in Molecular Medicine·Moran Dvela-LevittAnna Greka
Apr 4, 2021·International Journal of Molecular Sciences·Julie Xia Zhou, Xiaogang Li
Aug 11, 2020·KI Reports·Gregory J WilsonNicole Isbel
Apr 16, 2021·European Journal of Human Genetics : EJHG·Judy SavigeBeata S Lipska-Ziętkiewicz
Sep 28, 2021·BMC Nephrology·Poornima VijayanMoumita Barua
Dec 16, 2021·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Steve SeltzsamFriedhelm Hildebrandt
Jul 16, 2021·Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association·Nine KnoersFranz Schaefer

❮ Previous
Next ❯

Related Concepts

Trending Feeds

COVID-19

Coronaviruses encompass a large family of viruses that cause the common cold as well as more serious diseases, such as the ongoing outbreak of coronavirus disease 2019 (COVID-19; formally known as 2019-nCoV). Coronaviruses can spread from animals to humans; symptoms include fever, cough, shortness of breath, and breathing difficulties; in more severe cases, infection can lead to death. This feed covers recent research on COVID-19.

Blastomycosis

Blastomycosis fungal infections spread through inhaling Blastomyces dermatitidis spores. Discover the latest research on blastomycosis fungal infections here.

Nuclear Pore Complex in ALS/FTD

Alterations in nucleocytoplasmic transport, controlled by the nuclear pore complex, may be involved in the pathomechanism underlying multiple neurodegenerative diseases including Amyotrophic Lateral Sclerosis and Frontotemporal Dementia. Here is the latest research on the nuclear pore complex in ALS and FTD.

Applications of Molecular Barcoding

The concept of molecular barcoding is that each original DNA or RNA molecule is attached to a unique sequence barcode. Sequence reads having different barcodes represent different original molecules, while sequence reads having the same barcode are results of PCR duplication from one original molecule. Discover the latest research on molecular barcoding here.

Chronic Fatigue Syndrome

Chronic fatigue syndrome is a disease characterized by unexplained disabling fatigue; the pathology of which is incompletely understood. Discover the latest research on chronic fatigue syndrome here.

Evolution of Pluripotency

Pluripotency refers to the ability of a cell to develop into three primary germ cell layers of the embryo. This feed focuses on the mechanisms that underlie the evolution of pluripotency. Here is the latest research.

Position Effect Variegation

Position Effect Variagation occurs when a gene is inactivated due to its positioning near heterochromatic regions within a chromosome. Discover the latest research on Position Effect Variagation here.

STING Receptor Agonists

Stimulator of IFN genes (STING) are a group of transmembrane proteins that are involved in the induction of type I interferon that is important in the innate immune response. The stimulation of STING has been an active area of research in the treatment of cancer and infectious diseases. Here is the latest research on STING receptor agonists.

Microbicide

Microbicides are products that can be applied to vaginal or rectal mucosal surfaces with the goal of preventing, or at least significantly reducing, the transmission of sexually transmitted infections. Here is the latest research on microbicides.

Related Papers

Kidney International
Dervla M ConnaughtonFriedhelm Hildebrandt
Nature Reviews. Nephrology
Asaf Vivante, Friedhelm Hildebrandt
Journal of Medical Genetics
C O Carter
Anales del sistema sanitario de Navarra
P Miguel-SocaI Edwards-Scringer
© 2022 Meta ULC. All rights reserved