Nephronophthisis.

Pediatric Nephrology : Journal of the International Pediatric Nephrology Association
Matthias T F Wolf, Friedhelm Hildebrandt

Abstract

Nephronophthisis (NPHP) is an autosomal recessive cystic kidney disease and the most frequent genetic cause of end-stage renal disease up to the third decade of life. It is caused by mutations in 11 different genes, denoted nephrocystins (NPHP1-11, NPHP1L). As an increasing number of these genes are identified, our knowledge of nephronophthisis is changing, thereby improving our understanding of the pathomechanisms in NPHP. Recent publications have described ciliary expression of nephrocystins together with other cystoproteins, such as polycystins 1 and 2 and fibrocystin. These findings have shifted our focus to a pathomechanism involving defects in ciliary function (ciliopathy) and planar cell polarity (PCP). In addition, discoveries of new nephrocystin genes have shown that the disease spectrum of NPHP is much broader than previously anticipated. Different forms of mutations within the same NPHP gene can cause different disease severity. In this review, we highlight the different hypotheses on the pathomechanisms for NPHP and underline the clinical variability of this disease. The clinical spectrum has become even more complex with the possibility of oligogenicity in NPHP.

References

Jan 1, 1989·Pediatric Nephrology : Journal of the International Pediatric Nephrology Association·M F GagnadouxR Habib
May 1, 1985·Archives of Disease in Childhood·M D DonaldsonC Chantler
Jan 1, 1982·Virchows Archiv. A, Pathological Anatomy and Histology·R WaldherrK Schärer
Feb 1, 1996·Pediatric Nephrology : Journal of the International Pediatric Nephrology Association·D L BloweyU Alon
Mar 21, 1998·Pediatric Nephrology : Journal of the International Pediatric Nephrology Association·A MoudgilS C Jordan
Jan 9, 1999·Developmental Medicine and Child Neurology·C M HarrisJ Wilson
Apr 10, 1999·European Journal of Human Genetics : EJHG·S Ala-MelloH Kääriäinen
Aug 9, 2001·Proceedings of the National Academy of Sciences of the United States of America·T BenzingG Walz
Mar 28, 2002·The Journal of Cell Biology·Gregory J PazourJoseph C Besharse
Apr 4, 2003·Proceedings of the National Academy of Sciences of the United States of America·Fangming LinPeter Igarashi
Aug 19, 2003·Nature Genetics·Terry Watnick, Gregory Germino
Mar 1, 1961·Acta Paediatrica·A C LOKENN J JOLSTER
Nov 1, 1961·American Journal of Ophthalmology·B SENIORJ L BRAUDO
Apr 27, 2004·Trends in Molecular Medicine·Kirk Mykytyn, Val C Sheffield
Aug 24, 2004·Nature Genetics·Russell J FerlandChristopher A Walsh
Jan 22, 2005·Journal of the American Society of Nephrology : JASN·Matthias T F WolfFriedhelm Hildebrandt
Mar 2, 2005·Nature Reviews. Genetics·Jose L BadanoNicholas Katsanis
Apr 29, 2005·Nature Genetics·Gregory G Germino
Sep 13, 2005·Journal of Medical Genetics·M A ParisiI A Glass
Dec 13, 2005·Nature Reviews. Genetics·Friedhelm Hildebrandt, Edgar Otto
Dec 13, 2005·Nature Genetics·Evelyne FischerMarco Pontoglio

❮ Previous
Next ❯

Citations

Jan 7, 2011·Pediatric Nephrology : Journal of the International Pediatric Nephrology Association·Aoife M Waters, Philip L Beales
Jan 19, 2012·Biologie aujourd'hui·Cathy Fisch, Pascale Dupuis-Williams
May 21, 2011·Human Molecular Genetics·Krasimir SlanchevGerd Walz
Jul 31, 2012·Human Molecular Genetics·Alejandro Estrada-CuzcanoDorus A Mans
Nov 15, 2011·Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association·Noriyuki SugiyamaTakahiko Yokoyama
Sep 13, 2013·Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association·Miriam MergenGerd Walz
Nov 5, 2011·Genes & Development·R Tyler HillmanMatthew P Scott
Nov 17, 2011·Genes & Development·Kevin J WrightPeter K Jackson
Aug 28, 2012·Nephron. Clinical Practice·Neveen A Soliman
May 9, 2012·Disease Models & Mechanisms·Dominic P Norris, Daniel T Grimes
Sep 27, 2013·PloS One·Yun Hee KimAlbrecht Kramer-Zucker
Sep 1, 2014·Surgical Pathology Clinics·Joseph P Gaut
Oct 1, 2014·Nature Reviews. Nephrology·Christine E KurschatThomas Benzing
Jan 25, 2011·Pediatric Nephrology : Journal of the International Pediatric Nephrology Association·Julia HoefeleFriedhelm Hildebrandt
Nov 28, 2012·Pediatric Nephrology : Journal of the International Pediatric Nephrology Association·Helen Liapis, Joseph P Gaut
Feb 13, 2016·Cardiovascular Pathology : the Official Journal of the Society for Cardiovascular Pathology·Rohit S LoombaRobert H Anderson
Jun 11, 2011·International Journal of Nephrology·Roslyn J SimmsJohn A Sayer
Sep 8, 2011·Advances in Chronic Kidney Disease·Katherine MacRae Dell
Sep 13, 2011·La Presse médicale·Emma Allain-Launay, Gwénaëlle Roussey-Kesler
Jul 7, 2011·Biology of the Cell·Cathy Fisch, Pascale Dupuis-Williams
Jun 20, 2015·Advances in Chronic Kidney Disease·Monica T Cramer, Lisa M Guay-Woodford
Jun 4, 2015·Irish Journal of Medical Science·A HaghighiK Dahan
Apr 15, 2015·Nature Reviews. Nephrology·Fouad T ChebibVicente E Torres
Jul 1, 2015·Journal of Ophthalmology·Sarita Rani PatnaikXinhua Shu
Jul 24, 2012·Current Opinion in Cell Biology·Tamina Seeger-Nukpezah, Erica A Golemis
Sep 11, 2013·Annual Review of Genetics·Shiaulou Yuan, Zhaoxia Sun
Oct 12, 2016·PLoS Genetics·Chen-Jei Hong, Bruce A Hamilton
Nov 20, 2016·The Journal of Pathology·Hannah M Mitchison, Enza Maria Valente
May 17, 2017·CEN Case Reports·Fateme Shamekhi Amiri, Ariana Kariminejad

❮ 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

Journal of the American Society of Nephrology : JASN
Friedhelm HildebrandtEdgar A Otto
Pediatric Nephrology : Journal of the International Pediatric Nephrology Association
Rémi SalomonPatrick Niaudet
The Journal of Clinical Investigation
Norann A Zaghloul, Nicholas Katsanis
© 2021 Meta ULC. All rights reserved