Prevalent FHR-1 mutant protein generated by gene conversion reveals crucial role of factor H polymorphisms in atypical Hemolytic Uremic Syndrome (aHUS)

Tortajada, Agustín; García, Sheila Pinto; Gastoldi, Sara; García-Fernández, Jesús; Merinero, Héctor Martín; Arjona, Emilia; Noris, Marina; Córdoba, Santiago Rodrı́guez de

doi:10.1016/j.imbio.2016.06.166

Cited by 2 publications

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“…Recently, a robust correlation between CFH-related proteins and a variety of complement-mediated diseases have been documented. Functional parameters ( e.g ., complement regulators and CFH competitors) have recently attained significant popularity[ 39 ].…”

Section: Clinical Presentationmentioning

confidence: 99%

Complement-mediated renal diseases after kidney transplantation - current diagnostic and therapeutic options in de novo and recurrent diseases

Abbas¹,

Kossi

Kim

et al. 2018

WJT

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For decades, kidney diseases related to inappropriate complement activity, such as atypical hemolytic uremic syndrome and C3 glomerulopathy (a subtype of membranoproliferative glomerulonephritis), have mostly been complicated by worsened prognoses and rapid progression to end-stage renal failure. Alternative complement pathway dysregulation, whether congenital or acquired, is well-recognized as the main driver of the disease process in these patients. The list of triggers include: surgery, infection, immunologic factors, pregnancy and medications. The advent of complement activation blockade, however, revolutionized the clinical course and outcome of these diseases, rendering transplantation a viable option for patients who were previously considered as non-transplantable cases. Several less-costly therapeutic lines and likely better efficacy and safety profiles are currently underway. In view of the challenging nature of diagnosing these diseases and the long-term cost implications, a multidisciplinary approach including the nephrologist, renal pathologist and the genetic laboratory is required to help improve overall care of these patients and draw the optimum therapeutic plan.

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Section: Clinical Presentationmentioning

confidence: 99%

Complement-mediated renal diseases after kidney transplantation - current diagnostic and therapeutic options in de novo and recurrent diseases

Abbas¹,

Kossi

Kim

et al. 2018

WJT

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“…Indeed, in recent years, a large number of genetic studies have established a strong association between the factor H-related proteins and different diseases involving complement dysregulation. This association, together with the recent functional data on factor H-related proteins such as FH competitors and complement deregulators, has gained the attention of the complement scientific community[99]. …”

Section: Pathophysiology and Recurrence Of C3gmentioning

confidence: 99%

Complement related kidney diseases: Recurrence after transplantation

Salvadori¹,

Bertoni²

2016

WJT

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The recurrence of renal disease after renal transplantation is becoming one of the main causes of graft loss after kidney transplantation. This principally concerns some of the original diseases as the atypical hemolytic uremic syndrome (HUS), the membranoproliferative glomerulonephritis (MPGN), in particular the MPGN now called C3 glomerulopathy. Both this groups of renal diseases are characterized by congenital (genetic) or acquired (auto-antibodies) modifications of the alternative pathway of complement. These abnormalities often remain after transplantation because they are constitutional and poorly influenced by the immunosuppression. This fact justifies the high recurrence rate of these diseases. Early diagnosis of recurrence is essential for an optimal therapeutically approach, whenever possible. Patients affected by end stage renal disease due to C3 glomerulopathies or to atypical HUS, may be transplanted with extreme caution. Living donor donation from relatives is not recommended because members of the same family may be affected by the same gene mutation. Different therapeutically approaches have been attempted either for recurrence prevention and treatment. The most promising approach is represented by complement inhibitors. Eculizumab, a monoclonal antibody against C5 convertase is the most promising drug, even if to date is not known how long the therapy should be continued and which are the best dosing. These facts face the high costs of the treatment. Eculizumab resistant patients have been described. They could benefit by a C3 convertase inhibitor, but this class of drugs is by now the object of randomized controlled trials.

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Prevalent FHR-1 mutant protein generated by gene conversion reveals crucial role of factor H polymorphisms in atypical Hemolytic Uremic Syndrome (aHUS)

Cited by 2 publications

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Complement-mediated renal diseases after kidney transplantation - current diagnostic and therapeutic options in de novo and recurrent diseases

Complement-mediated renal diseases after kidney transplantation - current diagnostic and therapeutic options in de novo and recurrent diseases

Complement related kidney diseases: Recurrence after transplantation

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