Russian Federation
The article provides an observation of the clinical detection of familial hereditary hemorrhagic telangiectasia (Osler-Weber-Rondu disease), which is manifested by a tumor of the transformation of small foci in multiple telangiectasias, on the skin, mucous and serous membranes, arteriovenous shunts in the internal organs and aneurysms, which is manifested by bleeding. This rare defect had various clinical manifestations in the mother and caused relapses of pulmonary circulation in the child and, as a result, posthemorrhagic anemia. The given obligatory observation by a pediatrician should be directed to severe symptoms of the disease and obligatory compliance with the requirements and treatment
children, malformations of the lungs, arteriovenous malformation, recurrent pulmonary bleeding
1. Sokolova L.V., Mizernickiy Yu.L., Polischuk L.A., Kotov V.S., Volkova Ya.Yu. Bolezn' Oslera-Randyu-Vebera // Trudnyy pacient. 2008. T. 6, № 9. S. 22-24.
2. Il'enkova N. A., Alekseeva O. V. Bolezn' Oslera-Rondyu-Vebera s porazheniem legkih // Sibirskoe medicinskoe obozrenie.2011. № 4. S .85-88.
3. Marchuk D. A. The molecular genetics of hereditary hemorrhagic telangiectasia // Chest. 1997, Vol. 111, no. 6. P. 79-82.
4. Abdalla S. A., Cymerman U., Rushlow D., Chen N., Stoeber G. P., Lemire E. G., Letarteet M. Novel mutations and polymorphisms in genes occusing hereditary hemorrhagic telangiectasia // Human Mutation. 2005, Vol. 25. no. 3. P. 320-321.
5. Johnson D. W., Berg J. N., Baldwin M. A., Gallione C. J., Marondel I., Yoon S. J., Stenzel T. T., Speer M., Pericak-Vance M. A., Diamond A., Guttmacher A. E., Jackson C. E., Attisano L., Kucherlapati R., Porteous M. E., Marchuk D. A. Mutations in the activin receptor-like kinase 1 gene in hereditary hemorrhagic telangiectasia type 2 // Nature Genetics. 1996, Vol. 13. no. 2. P. 189-195.
6. Berg J., Porteus M., Reinhardt G., Gallione S., Holloway S., Umasunthar T., Lux A., McKinnon W., Marchuk D., Guttmacher A. Hereditary hemorrhagic telangiectasia: a questionnaire the different phenotypes caused by endoglin and ALK1 mutations // Journal of Medical Genetics. 2005, Vol. 40, no. 8. P. 585-590