Radiological features of malignant osteopetrosis at early and late stages of disease
https://doi.org/10.17650/1818-8346-2012-7-4-43-47
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.
About the Authors
E. L. Sakharovskaya
Federal Research Center of Pediatric Hematology, Oncology and Immunology named after Dmitry Rogachev, Ministry of Health of Russia
Russian Federation
Russian Federation
I. B. Reznik
Federal Research Center of Pediatric Hematology, Oncology and Immunology named after Dmitry Rogachev, Ministry of Health of Russia
Hadassah Hebrew University Medical Center
Russian Federation
Russian Federation
M. M. Dubrovin
Federal Research Center of Pediatric Hematology, Oncology and Immunology named after Dmitry Rogachev, Ministry of Health of Russia
Russian Federation
Russian Federation
G. P. Pavlova
Federal Research Center of Pediatric Hematology, Oncology and Immunology named after Dmitry Rogachev, Ministry of Health of Russia
Republic Children Clinical Hospital
Russian Federation
Russian Federation
A. Yu. Shcherbina
Federal Research Center of Pediatric Hematology, Oncology and Immunology named after Dmitry Rogachev, Ministry of Health of Russia
Russian Federation
Russian Federation
References
1. Pangrazio A., Pusch M., Caldana E. Molecular and clinical heterogeneity in CLCN7-dependent osteopetrosis: report of 20 novel mutations. Hum Mutat 2010;31(1):1071–80.
2. Bhargava A., Blank R. Osteopetrosis. Emedicine Oct 13, 2009; Emedicine. medscape.com/article/123968-overview.
3. Гинтер Е., Краснов М., Кириллов А. Аутосомно-рецессивный остеопетроз. Метод указания. Чебоксары, 2004. 36 с.
4. Близнец И.А., Тверская С.М., Зинченко Р.А. и др. Молекулярно-генетическая причина остеопетроза в Чувашии. Мед ген 2005;4(7):315–21.
5. Кириллов А.Г. Наследственные болезни в Чувашской Республике. Автореф. дис. … докт. мед. наук, 2008.
6. Stark Z., Savarirayan R. Osteopetrosis. Orphanet J Rare Dis 2009;4:5.
7. Steward C.G. Neurological aspects of osteopetrosis. Neuropathol Appl Neurobiol 2003;29(2):87–97.
8. Fasth A. Osteopetrosis – more than only a disease of the bone. Wiley Inter Science 0.1002/ajh.21454. 18 May 2009.
9. Сахаровская Е., Stepensky P., Rheingold L. и др. Клинические проявления инфантильной (злокачественной) формы остеопетроза. Онкогематол 2010;4:28–32.
10. Schulz A.S., Moshous D., Steward C.G., Villa A. Osteopetrosis Consensus guidelines for diagnostics, therapy and follow up. Consensus guidelines of the ESID and the EBMT: Version 0.17092009х.
11. Tolar J., Bonfim C., Grewal S., Orchard P. Engraftment and survival following hematopoietic stem cell transplantation for osteopetrosis using a reduced intensity conditioning regimen. Bone Marrow Transplantation 2006;38(12):783–7.
12. Stepensky P., Schulz A.S., Lahr G. et al. Successful second haploidentical SCT in osteopetrosis. Bone Marrow Transplantation 2010 Sep 20 [Epub ahead of print].
13. Frattini A., Orchard P.J., Sobacchi C. et al. Defects in TCIRG1 subunit of the vacuolar proton pump are responsible for a subset of human autosomal recessive osteopetrosis. Nat Genet 2000;25(3):343–6.
14. Cleiren E., Benichou O., Van Hul E. et al. Albers-Schonberg disease (autosomal dominant osteopetrosis, type II) results from mutations in the C1CN7 chloride channel gene. Hum Mol Genet 2001;10:2861–7.
15. Pangrazio A., Pusch M., Caldana E. Molecular and clinical heterogeneity in CLCN7-dependent osteopetrosis: report of 20 novel mutations. Hum Mutat 2010;31(1):E1071–80.
16. Ogbureke K.U., Zhao Q., Li Y.P. et al. Human osteopetroses and the osteoclast V-H+-ATPase enzyme system. Front Biosci 2005;10(1):2940–54.
17. Baron R. Anatomy and Ultrastructure of Bone. Primer on the Metabolic Bone Diseases and Disorders of Mineral Metabolism. 4th ed, Philadelphia, 1999.
18. Aker M., Shapira M.Y., Resnick I. et al. Allogeneic stem cell transplantation for the treatment of diseases associated with a deficiency in bone marrow products. Springer Semin Immunopathol 2004;26(1–2):133–42.
19. El-Tawil T., Stoker D. Benign osteopetrosis: a review of 42 cases showing two different patterns. Skeletal Radiol 1993;22(8):587–93.
Review
For citations:
Sakharovskaya E.L., Reznik I.B., Dubrovin M.M., Pavlova G.P., Shcherbina A.Yu. Radiological features of malignant osteopetrosis at early and late stages of disease. Oncohematology. 2012;7(4):43-47. (In Russ.) https://doi.org/10.17650/1818-8346-2012-7-4-43-47
Views:
9815
Email this article 