The Renda-Oslera-Weber disease

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Rendu-Osler-Weber's disease (hereditary hemorrhagic telangiectasia, Osler-Weber-Rendu syndrome, ORW disease) is a genetically conditioned disease of the phagocytosis group. It manifests itself in vascular malformations. Inheritance is autosomal dominant. In the course of disease, pubescent, oral, lips and tongue, as well as gastrointestinal tract (stomach, esophagus) and urinary tract, are susceptible to traumatic brain injury. The number of hemangiomas increases with age; clinical signs are also increasing. Hemorrhoids are treated locally with hemostatic drugs or tamponade; Frequent developing myeloid leukemia requires treatment with iron preparations or turning of erythrocyte mass. Type I disease is caused by a mutation in the ENG gene in the 9q34 locus encoding the endoglin. Other types of disease are associated with mutations in the ALK1 locus on chromosome 12q (type II), CACNA1A on 5q31 (type III) and 7p14 (type IV). Bibliography

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