ASN studies address aHUS Research Agenda

Once again, the American Society of Nephrology’s (ASN) Kidney Week adds considerably to the knowledge of kidney disease in all its facets

During Kidney Week, this year held in New Orleans, there are hundreds of talks and presentations, and thousands of posters from clinicians from many countries around the world.

As has been the case for several years now, aHUS is a topic which features and now increasingly associated with other complement related thrombotic microangiopathies (TMAs).

The following is a list of posters presented at Kidney Weeks found with an “aHUS” term search of the conference poster database. Click on the title to see a more detailed abstract of each.

 

Ongoing Eculizumab (ECU) Prevents Thrombotic Microangiopathy (TMA) in Patients (Pts) with Atypical Hemolytic Uremic Syndrome (aHUS): Final Long-Term Observational Study Data

This is the long awaited multi-national report on the study of the those aHUS patients involved in the early trials of the use of Eculizumab for treating aHUS. It works when needed to stop the TMA. The report provides data on the TMA incidents when on or off treatment.

 

Spanish Experience of Pregnancy-Associated Atypical Hemolytic Uremic Syndrome

In this report by the Spanish Group for the study of Complement and Renal Disease the results of a study of Spanish aHUS patients whose precipitating event  was pregnancy was presented. Among the characteristics was a suggestion that there was a high association with cesarian delivery.

 

Evolution of Post-Transplant Atypical Hemolytic Uremic Syndrome (aHUS)

In this review of 306 Brazillian patients 12 were found to have had post transplant TMA and of these 9 were found to have had aHUS and all had higher than needed levels of tacrolimis. There were variable outcomes with use of Eculizumab and half recovered well.

 

Atypical Hemolytic Syndrome Post-Transplant

In this case study from Kentucky included in the ASN publication, a patient who had a renal-pancreas transplant experienced idiopathic  aHUS post transplant.

 

Monoclonal IgG4/2-Kappa Deposition Following Eculizumab Therapy for Recurrent Atypical Hemolytic Uremic Syndrome (aHUS) in Kidney Transplantation

In this published abstract from Boston some deposits were found in a  post transplant biopsy of an aHUS patient who had experienced recurrent TMA. The significance of such deposits is as yet unknown.

 

Presentations, Outcomes, and Complement Gene Analysis in a Single-Center Cohort of Patients with Atypical Hemolytic Uremic Syndrome

The characteristics of patients in the aHUS Registry for this recruiting site in Virginia are reported with some differences found to the “norm” in terms of age ethnicity  predisposing genetic mutations and other factors.

 

Results from the Cross-Sectional Evaluation of Clinical Symptoms and Epidemiologic Parameters in Patients with TMA, Differentiated by Laboratory Parameters Study (CESAR)

This study from Germany of over 200 patients with TMA found that over half were due to aHUS.

 

HUStling for HELLP: A Case of Pregnancy Induced Atypical HUS (aHUS) and HELLP Syndrome

In this case study from Dallas USA ,the challenge of diagnosing the cause of TMA in pregnancy is discussed. A patient presenting with HELLP is found to have aHUS because of complement involvement.

 

Calcineurin Inhibitor-Induced Endothelial Cell Injury – A Role for Complement

In this paper from Canada a possible trigger for TMA with evidence of CFH involvement is postulated through the use of Calcineurin Inhibitor drugs.

 

Parvovirus Infection Mimicking Atypical Hemolytic Uremic Syndrome in an Immunocompetent Adult

Although the link is not clear in this case study a patient presenting with a TMA in Pennsylvania was found to have Parvovirus infection which is thought to have triggered aHUS.

 

Saudi Children Have High Prevalence of Genetic Related Atypical Hemolytic Uremic Syndrome and Better Renal Recovery with Eculizumab Therapy

This abstract which made the publication for Kidney week is from Saudi Arabia and is about how children with aHUS there have a high level of genetic mutations, there is a high level of consanguinity marriages,  but they  respond well to eculizumab.

 

Deleterious Impact of a Novel CFH Splice Site Mutation in Atypical Hemolytic Uremic Syndrome

This study group in Germany found a novel significant variant (mutation) in Complement Factor H .

 

Successful Treatment of Severe AKI Caused by Catastrophic Anti-Phospholipid Syndrome (CAPS) Associated Thrombotic Microangiopathy (TMA) by Anti-C5 Monoclonal Antibody

In this case study from New York  a Secondary TMA trigeered by a catastpohic episode of antiphospholipid syndrom was found to be a likely effect of  alternative pathway of Complement . eculizumab was effective as a treatment in this instance.

 

Atypical Hemolytic Syndrome (aHUS) Presenting as Acute Pulmonary-Renal Syndrome Preceded by Ocular Manifestation: A Very Rare Presentation

This study reports on a case study of a patient experiencing aHUS as a result of TMA brought on by  Acute Pulmonary-Renal Syndrome with extra renal manifestation.

 

Ex Vivo Formation of C5b9 on Endothelial Cells Differentiates Complement-Mediated Renal Failure from Hypertensive Nephrosclerosis in Severely Hypertensive Patients

This oral poster was presented by a group from Maasrict in The Netherlands and reveals that some patients thought to have hypertension related kidney diseases were found to have TMA mediated by Complement and with complement genetic mutations.

 

Thrombotic Microangiopathy: The Importance of Early Identification and Differentiation

In this case study from Alabama a diagnosis of aHUS followed from initially thinking the patient had malignant hypertension TMA. It claims there is an overlap with aHUS for some MH patients.

 

Atypical Hemolytic Uremic Syndrome (aHUS) Presenting as Acute Heart Failure: A Rare Presentation Diagnosed on Skin Biopsy

In this case study from New York a patient presenting with heart failure is found to have a TMA by the use of a skin biopsy which is found to have been complement mediated aHUS.

 

Novel PLG Gene Mutation with Heterozygous CHFR1-R3 Deletion in a Patient with Atypical Hemolytic Uremic Syndrome and Lupus Nephritis

In this case study from Oklahoma a double hit from complement mutations and a coagulation mutation triggered both an aHUS onset and Lupus flare illustrating again an overlap between primary and secondary aHUS/TMAs

 

Renal Crisis in Scleroderma: A Renal Complementopathy?

Another example in this study from Chicago  of the overlap between complement mediated TMA and other secondary triggers causing renal disease.

 

Overlap of C3 Glomerulonephritis and Thrombotic Microangiopathy

In this poster from the Mayo clinic another TMA was studied and because of the complement mediated causes , an overlap between C3G/MPGN and aHUS can result.

 

Atypical Hemolytic Uremic Syndrome Associated with Complement Factor H Mutation: First Case Report on a Patient with IgA Nephropathy

In this case study from Japan the possible trigger of aHUS by IgaN is reported.

 

 

Whilst it is appreciated that all the clinicians and researchers have had to make a considerable effort to collect evidence and write papers about their findings , recognition needs also to be given to all the aHUS and other patients who have allowed their experiences to be described for the benefit of others.

As has been the case for several years now, the atypical HUS Foundation (USA patient organisation) has had a booth in the Exhibition Hall.