Is the atypical hemolytic uremic syndrome risk polymorphism in Membrane Cofactor Protein MCPggaac relevant in kidney transplantation? A case report.

Pediatric Transplantation
Ana Sánchez-MorenoSantiago Rodríguez de Córdoba

Abstract

aHUS is a rare disease characterized by episodes of TMA that frequently progresses to CKD and often recurs after KT. The most frequent cause of aHUS is defective regulation of complement activation because of genetic anomalies. Eculizumab interrupts the process of TMA and improves renal function. We describe one female patient with aHUS who debuted in 2005 at 3-mo-old with extrarenal manifestations and progressed to end-stage kidney disease (ESKD) within a year. Her family history included several affected members with similar bad outcomes. Our patient carries a strong aHUS genetic predisposition consisting in a pathogenic gain-of-function mutation in complement factor B concurrent with the MCP aHUS risk haplotype MCPggaac. She received a kidney transplant in 2011 without eculizumab prophylaxis. The graft, which was negative for the MCPggaac risk haplotype, had an unexpected excellent evolution without aHUS recurrence. Different retrospective studies have shown that the risk of aHUS recurrence after KT correlates well with the genetic load of aHUS risk factors. Knowing important contribution of the MCPggaac risk haplotype to the risk of developing aHUS in Factor B mutations carriers, we speculate whether the absence of this pol...Continue Reading

References

Dec 22, 2006·Proceedings of the National Academy of Sciences of the United States of America·Elena Goicoechea de JorgeSantiago Rodríguez de Córdoba
Sep 21, 2007·Transfusion·Bruno MichonMartin A Champagne
Sep 19, 2008·Pediatric Nephrology : Journal of the International Pediatric Nephrology Association·Gema AricetaUNKNOWN European Paediatric Study Group for HUS
Dec 27, 2011·American Journal of Kidney Diseases : the Official Journal of the National Kidney Foundation·Gema AricetaMargarita Lopez-Trascasa
Sep 11, 2012·American Journal of Transplantation : Official Journal of the American Society of Transplantation and the American Society of Transplant Surgeons·J ZuberUNKNOWN French Study Group for Atypical HUS
Jan 12, 2013·Clinical Journal of the American Society of Nephrology : CJASN·Véronique Fremeaux-BacchiChantal Loirat
Jan 30, 2013·American Journal of Transplantation : Official Journal of the American Society of Transplantation and the American Society of Transplant Surgeons·M Le QuintrecV Frémeaux-Bacchi
Feb 23, 2013·Journal of the American Society of Nephrology : JASN·Elena BresinUNKNOWN European Working Party on Complement Genetics in Renal Diseases
Dec 24, 2013·Pediatric Nephrology : Journal of the International Pediatric Nephrology Association·Jeffrey Saland
Mar 25, 2014·American Journal of Kidney Diseases : the Official Journal of the National Kidney Foundation·Gianluigi ArdissinoMassimo Cugno
Apr 11, 2015·Pediatric Nephrology : Journal of the International Pediatric Nephrology Association·Chantal LoiratUNKNOWN HUS International
Oct 13, 2015·Nefrología : publicación oficial de la Sociedad Española Nefrologia·Josep M CampistolSantiago Rodríguez de Córdoba
Aug 20, 2017·American Journal of Kidney Diseases : the Official Journal of the National Kidney Foundation·Caroline DuineveldJack F M Wetzels
Apr 4, 2018·Pediatric Nephrology : Journal of the International Pediatric Nephrology Association·Kibriya FidanOguz Soylemezoglu
Mar 23, 2019·KI Reports·Andrew M SiedleckiUNKNOWN Global aHUS Registry
Jun 4, 2020·Blood·Emilia ArjonaSantiago Rodríguez de Córdoba

❮ Previous
Next ❯

Citations


❮ 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

Tidsskrift for den Norske lægeforening : tidsskrift for praktisk medicin, ny række
Kashif Waqar Faiz
© 2021 Meta ULC. All rights reserved