Chromosomal rearrangement—A rare cause of complement factor I associated atypical haemolytic uraemic syndrome
نویسندگان
چکیده
منابع مشابه
Atypical Haemolytic Uraemic Syndrome Associated with a Hybrid Complement Gene
BACKGROUND Sequence analysis of the regulators of complement activation (RCA) cluster of genes at chromosome position 1q32 shows evidence of several large genomic duplications. These duplications have resulted in a high degree of sequence identity between the gene for factor H (CFH) and the genes for the five factor H-related proteins (CFHL1-5; aliases CFHR1-5). CFH mutations have been describe...
متن کاملAtypical haemolytic uraemic syndrome.
The haemolytic uraemic syndrome (HUS) is characterized by the triad of thrombocytopenia, microangiopathic haemolytic anaemia and acute renal failure. HUS may be classified as either diarrhoeal-associated or non-diarrhoeal/atypical (aHUS). aHUS has recently been shown to be a disease of complement dysregulation, with 50% of cases involving the complement regulatory genes, factor H (CFH), membran...
متن کاملAtypical haemolytic uraemic syndrome
Introduction Atypical haemolytic uremic syndrome is a result of a spectrum of diseases. Disorders of complement regulation are the most important reasons in the aetiology. It is associated with defective regulation of the alternative complement pathway in over 50% of cases. Clinical abnormalities are related with the presence of thrombotic microangiopathy. Patients with atypical haemolytic urem...
متن کاملONLINE MUTATION REPORT Complement factor I: a susceptibility gene for atypical haemolytic uraemic syndrome
H aemolytic uraemic syndrome (HUS), the most frequent cause of acute renal failure in childhood, is characterised by the association of acute renal failure, microangiopathic haemolytic anaemia, and thrombocytopenia. 2 The majority of HUS cases occur after an episode of infectious diarrhoea, and are associated with Escherichia coli O157:H7 infection. However, atypical cases of HUS occur in the a...
متن کاملComplement factor I: a susceptibility gene for atypical haemolytic uraemic syndrome.
H aemolytic uraemic syndrome (HUS), the most frequent cause of acute renal failure in childhood, is characterised by the association of acute renal failure, microangiopathic haemolytic anaemia, and thrombocytopenia. 2 The majority of HUS cases occur after an episode of infectious diarrhoea, and are associated with Escherichia coli O157:H7 infection. However, atypical cases of HUS occur in the a...
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ژورنال
عنوان ژورنال: Immunobiology
سال: 2016
ISSN: 0171-2985
DOI: 10.1016/j.imbio.2016.05.002