Atypical aHUS: State of the art

Nester, Carla; Barbour, Thomas; Córdoba, Santiago R de; Dragon-Durey, Marie-Agnès; Frémeaux‐Bacchi, Véronique; Goodship, Tim; Kavanagh, David; Noris, Marina; Pickering, Matthew C.; Sánchez-Corral, Pilar; Skerka, Christine; Zipfel, Peter F.; Smith, Richard J.H.

doi:10.1016/j.molimm.2015.03.246

Cited by 255 publications

(276 citation statements)

References 142 publications

Supporting

Mentioning

253

Contrasting

Unclassified

Order By: Relevance

“…Other causes that may produce a predominant kidney affectation by TMA are infection by S. pneumoniae and Influenza virus producer of neuraminidase, HIV and other viral infection, chemotherapy, pregnancy, postpartum, cancer and autoimmune disorders. [8] All these etiologies were discarded, so secondary TMA was unlikely.…”

Section: Discussionmentioning

confidence: 99%

“…The condition of "primary" implies an alternative complement pathway defect. It has been described that 40%-70% of aHUS present a genetic mutation [4,8,9] and approximate 50% have a triggering factor. [8] Primary aHUS series describe that aHUS is more common in young adult.…”

Section: Discussionmentioning

confidence: 99%

“…It has been described that 40%-70% of aHUS present a genetic mutation [4,8,9] and approximate 50% have a triggering factor. [8] Primary aHUS series describe that aHUS is more common in young adult. [10] In our patient, factors that may have triggered the disease were oral contraceptive therapy, [4] gastrointestinal viral infectious process [8] and development of malignant hypertension.…”

Section: Discussionmentioning

confidence: 99%

“…[8] Primary aHUS series describe that aHUS is more common in young adult. [10] In our patient, factors that may have triggered the disease were oral contraceptive therapy, [4] gastrointestinal viral infectious process [8] and development of malignant hypertension. [7] Of all cases with alternative complement pathway defect (primary aHUS); 47% have a mutation in CFH, 14% in MCP, 10% in THBD, 8% in CFI and 8% in C3.…”

Section: Discussionmentioning

confidence: 99%

“…Secondary causes of TMA can be the cause themselves and/or acts as complement amplifiers factors on a genetic vulnerability. [7,8] …”

Section: Introductionmentioning

confidence: 99%

See 4 more Smart Citations

Novel Complement Factor H mutation, a case report of atypical hemolytic uremic syndrome

Sepúlveda

Tagle

Jara

2017

CRIM

View full text Add to dashboard Cite

Atypical hemolytic uremic syndrome (aHUS) is a rare but catastrophic disease. It is characterized by a triad of microangiopathic hemolytic anemia, thrombocytopenia and acute renal failure. When the aHUS is primary, the cause is due to mutations in proteins that regulate the alternative pathway of complement, such as Factor H, Factor I, Factor B, C3, Membrane Co-Factor Protein and Thrombomodulin. Usually primary aHUS is associated with other amplifiers complement factors. We present a case of aHUS in a 25-year-old female patient; she presented with malignant hypertension and severe renal failure. After a widespread study, the etiology of the aHUS was a mutation in the complement factor H, not previously described in the literature (p.Tyr1177His). After treatment with Eculizumab (C5 inhibitor monoclonal antibody), she recovered renal function with not hemodialysis requirements.

show abstract

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

“…Secondary causes of TMA can be the cause themselves and/or acts as complement amplifiers factors on a genetic vulnerability. [7,8] …”

Section: Introductionmentioning

confidence: 99%

See 3 more Smart Citations

Novel Complement Factor H mutation, a case report of atypical hemolytic uremic syndrome

Sepúlveda

Tagle

Jara

2017

CRIM

View full text Add to dashboard Cite

show abstract

Complement: Deficiency Diseases

Skattum

Truedsson

2015

Encyclopedia of Life Sciences

View full text Add to dashboard Cite

The complement system is crucial for defence against pathogens, removal of unwanted materials such as dying cells or immune complexes as well as for development of adaptive immune responses. Genetically determined deficiencies of components of the complement system are usually relatively rare, but they result in many severe diseases such as an increased susceptibility to recurrent, severe bacterial infections, autoimmune disorders (systemic lupus erythematosus), glomerulonephritis including dense deposit disease and C3 glomerulonephritis, paroxysmal nocturnal haemoglobinuria or angioedema. In addition, mutations and polymorphisms in complement proteins, particularly complement inhibitors, have been associated with atypical haemolytic uremic syndrome and age‐related macular degeneration. The elucidation of the pathophysiological basis for the different clinical presentations of complement‐deficient individuals has contributed to a better understanding of the physiological role of complement in normal individuals as well as to the development of emerging therapies. Key Concepts The majority of complement deficiencies are rare but cause severe diseases. Deficiencies of the components of the classical pathway (C1q/r/s, C4 and C2) predispose to bacterial infections and systemic lupus erythematosus. The majority of complement deficiencies predispose to infections either with Neisseria species (deficiency of factor D, factor B, properdin, C5, C6, C7, C8 and C9) or with other encapsulated bacteria (C1q/r/s, mannose‐binding lectin, C2, C4, C3 and factor I). Mutations in C1q/r/s, C2, C4, C3, factor I and factor H can cause glomerulonephritis. Paroxysmal nocturnal haemoglobinuria is caused by deficiency of complement inhibitors CD55 and CD59. Hereditary angioedema is found in patients with low C1‐inhibitor level or dysfunctional C1‐inhibitor. Atypical haemolytic uremic syndrome is mainly associated with mutations and polymorphisms in complement inhibitors. Age‐related macular degeneration is associated with polymorphisms in complement inhibitor factor H.

show abstract