GENETIC BACKGROUND OF ATYPICAL HEMOLYTIC-UREMIC SYNDROME AND ITS INFLUENCE ON THE COURSE OF DISEASE AND THERAPEUTIC EFFECTS
| Autor: | Ewelina Użarowska, Anna Wojcicka, Michał Kościółek |
|---|---|
| Rok vydání: | 2019 |
| Předmět: |
Thrombotic Microangiopathies
business.industry Therapeutic effect Genetic variants General Medicine Eculizumab Prognosis urologic and male genital diseases Bioinformatics medicine.disease Complement system Disease course hemic and lymphatic diseases Atypical hemolytic uremic syndrome medicine Alternative complement pathway Genetic predisposition Humans business Blood Coagulation Genetic Background Atypical Hemolytic Uremic Syndrome medicine.drug |
| Zdroj: | Europe PubMed Central |
| ISSN: | 0043-5147 |
| Popis: | Atypical hemolytic-uremic syndrome (aHUS) results from excessive, uncontrolled activation of the alternative pathway of the complement system. It is important to distinguish aHUS from other thrombotic microangiopathies. The aim of this paper is to discuss the complexity and relevance of the genetic background of aHUS patients. The review discusses the genetic variants that are important for diagnosis, treatment and prognosis of patients, which is inevitably important for the qualification of patients for treatment with eculizumab. These variants are not only found in the genes involved in the control of complement system but are also related to the coagulation system. The paper emphasizes the diagnostic difficulties resulting from the extremely diverse genetic background of the patients. It is important to conduct further genetic studies of aHUS patients, also paying attention to genes unrelated to the complement system. The paper contains information on the role of genetic predisposition in tailoring the risk for aHUS and determining its clinical outcome, including qualification for eculizumab therapy. |
| Databáze: | OpenAIRE |
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