Thrombomodulin Mutations in Atypical Hemolytic–Uremic Syndrome

Atypical hemolytic–uremic syndrome, a complex of microangiopathic hemolytic anemia, thrombocytopenia, and renal failure, is not associated with shigella toxin — unlike typical hemolytic–uremic syndrome — but is often associated with abnormal activation of complement by mutant components of the syste...

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Vydáno v:	The New England journal of medicine Ročník 361; číslo 4; s. 345 - 357
Hlavní autoři:	Delvaeye, Mieke, Noris, Marina, De Vriese, Astrid, Esmon, Charles T, Esmon, Naomi L, Ferrell, Gary, Del-Favero, Jurgen, Plaisance, Stephane, Claes, Bart, Lambrechts, Diether, Zoja, Carla, Remuzzi, Giuseppe, Conway, Edward M
Médium:	Journal Article
Jazyk:	angličtina
Vydáno:	Waltham, MA Massachusetts Medical Society 23.07.2009
Témata:	Adolescent Adult Biological and medical sciences Child Complement Activation - genetics Complement C3b Complement Factor I Complement Pathway, Alternative - physiology DNA Mutational Analysis Excretory system General aspects Genomics Hematologic and hematopoietic diseases Hemolytic-Uremic Syndrome - genetics Hemolytic-Uremic Syndrome - immunology Heterozygote Humans Medical disorders Medical sciences Middle Aged Mutation, Missense Nephrology. Urinary tract diseases Nephropathies. Renovascular diseases. Renal failure Pedigree Platelet diseases and coagulopathies Polymorphism, Single Nucleotide Proteins Renal failure Thrombomodulin - genetics Thrombomodulin - metabolism Young Adult Kidney disease Thrombocytopenia Urinary system disease Hemolytic uremic syndrome Acute Cardiovascular disease Hemopathy Thrombohemolytic microangiopathy Vascular disease Medicine Platelet Hemolytic anemia Renal failure Genetics Atypical Mutation Thrombomodulin
ISSN:	0028-4793, 1533-4406, 1533-4406
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Shrnutí:	Atypical hemolytic–uremic syndrome, a complex of microangiopathic hemolytic anemia, thrombocytopenia, and renal failure, is not associated with shigella toxin — unlike typical hemolytic–uremic syndrome — but is often associated with abnormal activation of complement by mutant components of the system. This study shows that in some patients with the atypical syndrome, there are disabling mutations of the THBD gene, which encodes thrombomodulin. As a result of these mutations, regulation of complement activation on cell surfaces is impaired, and cells are not protected from activated complement. This study shows that in some patients with the atypical hemolytic–uremic syndrome, there are disabling mutations of the THBD gene, which encodes thrombomodulin. As a result of these mutations, regulation of complement activation on cell surfaces is impaired, and cells are not protected from activated complement. The hemolytic–uremic syndrome consists of the triad of microangiopathic hemolytic anemia, thrombocytopenia, and acute renal failure. It is one of the thrombotic microangiopathies, along with thrombotic thrombocytopenia purpura and preeclampsia. 1 The hemolytic–uremic syndrome is the most common cause of acute renal failure among children, a condition for which 50 to 75% of patients require dialysis. 2 More than 85% of cases of the hemolytic–uremic syndrome are referred to as “typical”; these are preceded by diarrhea caused by strains of Escherichia coli 3 – 5 that produce Shiga-like toxins, which have proinflammatory and prothrombotic effects on the vascular endothelium. 6 Most cases of typical hemolytic–uremic . . .
Bibliografie:	ObjectType-Article-2 SourceType-Scholarly Journals-1 ObjectType-General Information-1 content type line 14 ObjectType-Feature-3 ObjectType-Article-1 ObjectType-Feature-2 content type line 23
ISSN:	0028-4793 1533-4406 1533-4406
DOI:	10.1056/NEJMoa0810739