ArticleInternational journal of hematology2016
Genetic variations in complement factors in patients with congenital thrombotic thrombocytopenic purpura with renal insufficiency.
Article in International journal of hematology, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.
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Who cites it
7 citing papers in PubMed, 20 citations in OpenAlex.
- The International Hereditary Thrombotic Thrombocytopenic Purpura Registry: key findings at enrollment until 2017.Haematologica · 2019Trial
- COVID-19 microthrombosis: unusually large VWF multimers are a platform for activation of the alternative complement pathway under cytokine storm.International journal of hematology · 2022Review
- Complement C5-inhibiting therapy for the thrombotic microangiopathies: accumulating evidence, but not a panacea.Clinical kidney journal · 2017Article
- ADAMTS13 missense variants associated with defective activity and secretion of ADAMTS13 in a patient with non-cirrhotic portal hypertension.Indian journal of gastroenterology : official journal of the Indian Society of Gastroenterology · 2017Article
- Murine systemic thrombophilia and hemolytic uremic syndrome from a factor H point mutation.Blood · 2017Article
- No association between dysplasminogenemia with p.Ala620Thr mutation and atypical hemolytic uremic syndrome.International journal of hematology · 2016Article
- A rare pathogenic MCP mutation in patient with congenital TTP.Hematology, transfusion and cell therapyArticle
Corrections and comments
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Authors and funding
13 authors at 6 institutions in 5 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The congenital form of thrombotic thrombocytopenic purpura (TTP) is caused by genetic mutations in ADAMTS13. Some, but not all, congenital TTP patients manifest renal insufficiency in addition to microangiopathic hemolysis and thrombocytopenia. We included 32 congenital TTP patients in the present study, which was designed to assess whether congenital TTP patients with renal insufficiency have predisposing mutations in complement regulatory genes, as found in many patients with atypical hemolytic uremic syndrome (aHUS). In 13 patients with severe renal insufficiency, six candidate complement or complement regulatory genes were sequenced and 11 missense mutations were identified. One of these missense mutations, C3:p.K155Q mutation, is a rare mutation located in the macroglobulin-like 2 domain of C3, where other mutations predisposing for aHUS cluster. Several of the common missense mutations identified in our study have been reported to increase disease-risk for aHUS, but were not more common in patients with as compared to those without renal insufficiency. Taken together, our results show that the majority of the congenital TTP patients with renal insufficiency studied do not carry rare genetic mutations in complement or complement regulatory genes.
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