An Atypical Case of Atypical Hemolytic Uremic Syndrome: Predominant Gastrointestinal Involvement, Intact Renal Function, and C5b-9 Deposition in Colon and Skin

  title={An Atypical Case of Atypical Hemolytic Uremic Syndrome: Predominant Gastrointestinal Involvement, Intact Renal Function, and C5b-9 Deposition in Colon and Skin},
  author={Jocelyn De Yao and Robert B. Kaplan and Cynthia M. Magro},
  journal={Journal of hematology},
Atypical hemolytic uremic syndrome (aHUS) is one of the prototypic thrombotic microangiopathies which arises from a genetically-based defect in the regulatory control of the alternate complement cascade. Although its cause is distinct, it shares a similar clinical presentation with thrombotic thrombocytopenic purpura with respect to its pattern of organ involvement, with most cases including the renal, central nervous, and gastrointestinal systems. Renal dysfunction in aHUS is generally… 
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Atypical hemolytic uremic syndrome (aHUS): making the diagnosis.

  • J. Laurence
  • Medicine, Biology
    Clinical advances in hematology & oncology : H&O
  • 2012
Clinically, aHUS is often indistinguishable from the other TMAs: Shiga toxin–producing Escherichia coli (STEC) hemolytic uremic syndrome andThrombotic thrombocytopenic purpura (TTP).

Hypocomplementemia discloses genetic predisposition to hemolytic uremic syndrome and thrombotic thrombocytopenic purpura: role of factor H abnormalities. Italian Registry of Familial and Recurrent Hemolytic Uremic Syndrome/Thrombotic Thrombocytopenic Purpura.

Reduced C3 clusters in familial HUS and TTP is likely related to a genetically determined deficiency in factor H and may predispose to the disease.

Atypical hemolytic-uremic syndrome.

Current concepts about the pathobiology of atypical hemolytic–uremic syndrome are reviewed and its diagnosis and management are reviewed.

Mutations in alternative pathway complement proteins in American patients with atypical hemolytic uremic syndrome

The first cohort of American patients in whom mutation screening was completed on all genes currently implicated in aHUS is presented, identifying a number of novel variants and providing information on the relative frequency of mutations in these genes in an American aH US population.

A classification of hemolytic uremic syndrome and thrombotic thrombocytopenic purpura and related disorders.

A classification that accommodates both a current understanding of causation and clinical association in cases for whom cause of disease is unclear is proposed and is expected to increase the proportion of cases in whom a level 1 etiological diagnosis is confirmed.

Eculizumab in the treatment of refractory idiopathic thrombotic thrombocytopenic purpura

A 27-year-old white male with severe idiopathic TTP characterized by thrombocytopenia, microangiopathian haemolytic anaemia, renal failure, seizures, and coma is reported, and emergency institutional review board approval was obtained to administer eculizumab, despite many of its shared pathological features with aHUS.

Mutations in complement C3 predispose to development of atypical hemolytic uremic syndrome.

9 novel C3 mutations are described in 14 aHUS patients with a persistently low serum C3 level and it is demonstrated that 5 of these mutations are gain-of-function and 2 are inactivating, establishing C3 as a susceptibility factor for aH US.

Advances in understanding the aetiology of atypical Haemolytic Uraemic Syndrome

This review analyses the complement proteins and processes that are disturbed in aHUS patients, and outlines the relevance of a prompt genetic/molecular diagnosis for improving clinical management and prognosis.

Drug-induced thrombotic microangiopathy.

The current understanding of the pathogenesis, the clinical and laboratory features, and the recommended treatments, prognosis, and outcomes of drug-associated TMA are reviewed.

Relative role of genetic complement abnormalities in sporadic and familial aHUS and their impact on clinical phenotype.

Results underline the need of genetic screening for all susceptibility factors as part of clinical management of aHUS and for identification of patients who could safely benefit from kidney transplant.