Clinical and epidemiological assessment of steroid-resistant nephrotic syndrome associated with the NPHS2 R229Q variant

Kidney International
Eduardo MachucaCorinne Antignac

Abstract

Mutations of NPHS2, encoding podocin, are the main cause of autosomal recessive steroid-resistant nephrotic syndrome (NS) presenting in childhood. Adult-onset steroid-resistant NS has been described in patients heterozygous for a pathogenic NPHS2 mutation together with the p.R229Q variant. To determine the frequency and the phenotype of patients carrying the p.R229Q variant, we sequenced the complete coding region of NPHS2 in 455 families (546 patients) non-responsive to immunosuppressive therapy or without relapse after transplantation. Among affected Europeans, the p.R229Q allele was significantly more frequent compared to control individuals. Thirty-six patients from 27 families (11 families from Europe and 14 from South America) were compound heterozygotes for the p.R229Q variant and one pathogenic mutation. These patients had significantly later onset of NS and end stage renal disease than patients with two pathogenic mutations. Among 119 patients diagnosed with NS presenting after 18 years of age, 18 patients were found to have one pathogenic mutation and p.R229Q, but none had two pathogenic mutations. Our study shows that compound heterozygosity for p.R229Q is associated with adult-onset steroid-resistant NS, mostly amon...Continue Reading

References

Jun 1, 1996·Pediatric Nephrology : Journal of the International Pediatric Nephrology Association·I Ichikawa, A Fogo
May 4, 2000·American Journal of Kidney Diseases : the Official Journal of the National Kidney Foundation·G L BradenM J Germain
Mar 7, 2001·Human Molecular Genetics·S SunyaevP Bork
Dec 26, 2001·The Journal of Clinical Investigation·K SchwarzP Mundel
Jan 24, 2002·Journal of the American Society of Nephrology : JASN·Stephanie M KarleArno Fuchshuber
Feb 21, 2002·The Journal of Clinical Investigation·Corinne Antignac
Mar 5, 2002·Genome Research·Pauline C Ng, Steven Henikoff
Nov 9, 2002·FASEB Journal : Official Publication of the Federation of American Societies for Experimental Biology·Lorenz SellinGerd Walz
Apr 23, 2003·Journal of the American Society of Nephrology : JASN·Gianluca CaridiGian Marco Ghiggeri
Jan 1, 2004·Molecular and Cellular Biology·Séverine RoselliCorinne Antignac
Feb 12, 2004·Kidney International·Alexandre C PereiraJosé E Krieger
Feb 24, 2004·Journal of the American Society of Nephrology : JASN·Rainer G RufUNKNOWN Arbeitsgemeinschaft Für Pädiatrische Nephrologie Study Group
Feb 18, 2005·Journal of the American Society of Nephrology : JASN·Stéphan TroyanovUNKNOWN Toronto Glomerulonephritis Registry Group
Aug 18, 2005·Kidney International·Jung Sue KimV Matti Vehaskari
Feb 17, 2006·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Nora FranceschiniCheryl Winkler
Nov 3, 2006·Proceedings of the National Academy of Sciences of the United States of America·Tobias B HuberThomas Benzing
Jan 12, 2007·Pediatric Nephrology : Journal of the International Pediatric Nephrology Association·Rasheed GbadegesinFriedhelm Hildebrandt
Mar 21, 2007·Pediatrics·Bernward G HinkesUNKNOWN Arbeitsgemeinschaft für Paediatrische Nephrologie Study Group
Jun 16, 2007·Nephron. Experimental Nephrology·Tobias B HuberThomas Benzing
Aug 21, 2007·Clinical Journal of the American Society of Nephrology : CJASN·Ning HeYork Pei
Sep 28, 2007·Pediatric Nephrology : Journal of the International Pediatric Nephrology Association·Afig BerdeliNilgun Cakar
Oct 19, 2007·Journal of the American Society of Nephrology : JASN·Louise M McKenzieCheryl A Winkler
Nov 15, 2007·Pediatric Nephrology : Journal of the International Pediatric Nephrology Association·Peter SchwadererStefanie Weber
Jan 25, 2008·Journal of the American Society of Nephrology : JASN·Bernward HinkesUNKNOWN APN Study Group
Feb 22, 2008·Kidney International·A PhilippeC Antignac
Apr 4, 2008·Journal of the American Society of Nephrology : JASN·Julien RateladeErnie L Esquivel
May 24, 2008·American Journal of Kidney Diseases : the Official Journal of the National Kidney Foundation·Anna KöttgenW H Linda Kao
Jun 11, 2008·Pediatric Nephrology : Journal of the International Pediatric Nephrology Association·Gil CherninFriedhelm Hildebrandt

❮ Previous
Next ❯

Citations

Aug 4, 2009·Journal of Molecular Medicine : Official Organ of the Gesellschaft Deutscher Naturforscher Und Ärzte·Martin ZenkerCorinne Antignac
Mar 25, 2010·Pediatric Nephrology : Journal of the International Pediatric Nephrology Association·Geneviève BenoitCorinne Antignac
Nov 27, 2010·Pediatric Nephrology : Journal of the International Pediatric Nephrology Association·Rasheed GbadegesinMichelle Winn
Jan 10, 2012·Pediatric Nephrology : Journal of the International Pediatric Nephrology Association·Konstantinos VoskaridesConstantinos Deltas
Dec 18, 2012·Pediatric Nephrology : Journal of the International Pediatric Nephrology Association·Andrea KertiKálmán Tory
Jun 27, 2013·Pediatric Nephrology : Journal of the International Pediatric Nephrology Association·Andrea KertiKálmán Tory
Sep 30, 2010·Nature Reviews. Nephrology·Patrick Niaudet
Jun 22, 2011·Nature Reviews. Nephrology·Marie Claire Gubler
Oct 8, 2009·Human Molecular Genetics·Eduardo MachucaCorinne Antignac
Feb 16, 2012·Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association·Ilse M RoodJack F M Wetzels
May 15, 2013·BMC Nephrology·Amy K MottlKaren E Weck
Aug 29, 2009·Journal of the American Society of Nephrology : JASN·Géraldine MolletErnie L Esquivel
Aug 29, 2009·Journal of the American Society of Nephrology : JASN·Aoife Waters, Ania Koziell
May 29, 2010·Journal of the American Society of Nephrology : JASN·Eduardo MachucaCorinne Antignac
Aug 28, 2010·Clinical Journal of the American Society of Nephrology : CJASN·Anja K BüscherMartin Konrad
Oct 16, 2010·Clinical Journal of the American Society of Nephrology : CJASN·Sheila SantínUNKNOWN FSGS Spanish Study Group
Mar 19, 2011·Clinical Journal of the American Society of Nephrology : CJASN·Sheila SantínElisabet Ars
Aug 30, 2014·Advances in Chronic Kidney Disease·Martin R Pollak
Feb 7, 2014·Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association·Louis-Philippe LaurinKaren E Weck
Jun 4, 2014·Pediatric Nephrology : Journal of the International Pediatric Nephrology Association·Matthew G SampsonMatthias Kretzler
Jan 26, 2013·Clinical Journal of the American Society of Nephrology : CJASN·Hugh J McCarthyUNKNOWN RADAR the UK SRNS Study Group
Jun 1, 2012·Kidney International Supplements
Mar 22, 2013·Kidney International·Beata S LipskaUNKNOWN PodoNet Consortium
Mar 7, 2014·Kidney International·Elizabeth J BrownMoumita Barua
Mar 14, 2009·Kidney International·Friedhelm Hildebrandt, Saskia F Heeringa
Oct 9, 2009·Kidney International·Sheila SantínUNKNOWN FSGS Spanish Study Group
Sep 8, 2011·Advances in Chronic Kidney Disease·V Matti Vehaskari
May 31, 2014·Evidence-based Complementary and Alternative Medicine : ECAM·Zhi-Hui DingYan Xie
Jul 26, 2011·Advances in Chronic Kidney Disease·Tino D Piscione, Christoph Licht
Oct 26, 2010·Annals of the New York Academy of Sciences·Geneviève BenoitCorinne Antignac
Oct 13, 2015·Revista chilena de pediatría·Marta AzocarFrancisco Cano
Mar 24, 2016·European Journal of Human Genetics : EJHG·Ryan E LamontAnne M Slavotinek
Sep 29, 2015·Clinical Kidney Journal·Paul J PhelanRasheed Gbadegesin
Oct 1, 2015·BMC Medical Genetics·Mara Sanches GuaragnaMaricilda P De Mello
Jul 15, 2015·BMC Nephrology·Ying Maggie Chen, Helen Liapis
May 6, 2016·Frontiers in Pediatrics·Rahul Chanchlani, Rulan S Parekh
Oct 25, 2011·American Journal of Human Genetics·Cecilie BredrupHeleen H Arts
Jan 18, 2018·Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association·Daniel AbramowiczGabriel C Oniscu
Feb 11, 2014·Journal of the American Society of Nephrology : JASN·Markus M RinschenThomas Benzing

❮ 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.