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Radiological features of malignant osteopetrosis at early and late stages of disease
- Authors: Sakharovskaya E.L.1, Reznik I.B.2, Dubrovin M.M.1, Pavlova G.P.3, Shcherbina A.Y.1
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Affiliations:
- Federal Research Center of Pediatric Hematology, Oncology and Immunology named after Dmitry Rogachev, Ministry of Health of Russia
- Federal Research Center of Pediatric Hematology, Oncology and Immunology named after Dmitry Rogachev, Ministry of Health of Russia Hadassah Hebrew University Medical Center
- Federal Research Center of Pediatric Hematology, Oncology and Immunology named after Dmitry Rogachev, Ministry of Health of Russia Republic Children Clinical Hospital
- Issue: Vol 7, No 4 (2012)
- Pages: 43-47
- Section: RARE DISEASES: DIFFERENTIAL DIAGNOSIS
- Published: 23.11.2012
- URL: https://oncohematology.abvpress.ru/ongm/article/view/75
- DOI: https://doi.org/10.17650/1818-8346-2012-7-4-43-47
- ID: 75
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Abstract
Infantile form of osteopetrosis (malignant osteopetrosis) is the most severe form of the disease. Specific radiological signs allow to suspect and
confirm the diagnosis. We analyzed the data of 17 patients with infantile osteopetrosis. In 13 from 17 patients we detected с.807+5 G>A mutation in TCIRG1 gene (most commonly seen in Chuvash and Mari). In all patients X-ray examination was performed with specific osteopetrosis signs in 100 % of cases. Regardless of age increased bone density and early ossification in this group of children were described. Details of radiological picture were significantly differing in different age groups. Most probably «Chuvash» mutation causes a less severe disease than other types of malignant osteopetrosis. Without treatment patients can survive 6–8 years that can detect radiological signs previously described only in adult (benign) osteopetrosis.
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About the authors
E. L. Sakharovskaya
Federal Research Center of Pediatric Hematology, Oncology and Immunology named after Dmitry Rogachev, Ministry of Health of Russia
Author for correspondence.
Email: sakharovskay@yandex.ru
Russian Federation
I. B. Reznik
Federal Research Center of Pediatric Hematology, Oncology and Immunology named after Dmitry Rogachev, Ministry of Health of RussiaHadassah Hebrew University Medical Center
Russian Federation
M. M. Dubrovin
Federal Research Center of Pediatric Hematology, Oncology and Immunology named after Dmitry Rogachev, Ministry of Health of RussiaRussian Federation
G. P. Pavlova
Federal Research Center of Pediatric Hematology, Oncology and Immunology named after Dmitry Rogachev, Ministry of Health of RussiaRepublic Children Clinical Hospital
Russian Federation
A. Yu. Shcherbina
Federal Research Center of Pediatric Hematology, Oncology and Immunology named after Dmitry Rogachev, Ministry of Health of RussiaRussian Federation
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