OncohematologyOncohematologyОнкогематология1818-83462413-4023Publishing House ABV Press7510.17650/1818-8346-2012-7-4-43-47RARE DISEASES: DIFFERENTIAL DIAGNOSISРЕДКИЕ БОЛЕЗНИ: ДИФФЕРЕНЦИАЛЬНАЯ ДИАГНОСТИКАRadiological features of malignant osteopetrosis at early and late stages of diseaseРентгенологическая картина злокачественного остеопетроза на ранних и поздних стадиях развития заболеванияSakharovskayaE. L.СахаровскаяЕ. Л.
Russian Federation
sakharovskay@yandex.ruReznikI. B.РезникИ. Б.
Russian Federation
DubrovinM. M.ДубровинМ. М.
Russian Federation
PavlovaG. P.ПавловаГ. П.
Russian Federation
ShcherbinaA. Yu.ЩербинаА. Ю.
Russian Federation
Federal Research Center of Pediatric Hematology, Oncology and Immunology named after Dmitry Rogachev, Ministry of Health of RussiaФГБУ ФНКЦ ДГОИ им. Дмитрия Рогачева Минздрава РоссииFederal Research Center of Pediatric Hematology, Oncology and Immunology named after Dmitry Rogachev, Ministry of Health of Russia Hadassah Hebrew University Medical CenterФГБУ ФНКЦ ДГОИ им. Дмитрия Рогачева Минздрава России Израильский Университетский медицинский центр «Хадасса»Federal Research Center of Pediatric Hematology, Oncology and Immunology named after Dmitry Rogachev, Ministry of Health of Russia Republic Children Clinical HospitalФГБУ ФНКЦ ДГОИ им. Дмитрия Рогачева Минздрава России Республиканская детская клиническая больница2311201274434723072014230720142012https://oncohematology.abvpress.ru/ongm/article/view/75

Infantile form of osteopetrosis (malignant osteopetrosis) is the most severe form of the disease. Specific radiological signs allow to suspect andconfirm 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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