Autosomal malignant osteopetrosis: From diagnosis to therapy

Minerva Pediatrica

Volumn 56, Issue 1, 2004, Pages 115-118

  Mohn, A ^a,d   Capanna, R ^a   Delli Pizzi, C ^b   Morgese, G ^c   Chiarelli, F ^a  

^a UNIVERSITY OF CHIETI   (Italy)

^b IRCCS SAN CAMILLO HOSPITAL   (Italy)

^c UNIVERSITY OF SIENA   (Italy)

^d Ospedale Policlinico   (Italy)

Author keywords

Growth disorders; Osteopetrosis, diagnosis; Osteopetrosis, surgery

Indexed keywords

CALCITRIOL; PREDNISONE; VITAMIN D;

ALBERS SCHOENBERG DISEASE; ARTICLE; AUTOSOMAL RECESSIVE INHERITANCE; BLINDNESS; BONE BIOPSY; BONE DENSITY; CASE REPORT; CLINICAL FEATURE; DIFFERENTIAL DIAGNOSIS; DISEASE CLASSIFICATION; DISEASE SEVERITY; EARLY DIAGNOSIS; EVOKED VISUAL RESPONSE; FAILURE TO THRIVE; FATALITY; FEMALE; GENETIC DISORDER; GINGIVA HYPERPLASIA; GROWTH DISORDER; HEARING IMPAIRMENT; HEMATOLOGY; HEPATOSPLENOMEGALY; HUMAN; HUMAN TISSUE; INFANT; NERVE COMPRESSION; NYSTAGMUS; OPTIC NERVE ATROPHY; OSSIFICATION; PANCYTOPENIA; QUALITY OF LIFE; SURVIVAL RATE;

ANTI-INFECTIVE AGENTS; HUMANS; INFANT; MALE; OSTEOPETROSIS; PREDNISOLONE; VITAMIN D;

EID: 2942746180     PISSN: 00264946     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (13)

1. De Vernejoul MC, Bénichou O. Human osteopetrosis and other sclerosing disorders: recent genetic developments. Calcif Tissue Int 2001 69:1-6.
2. Fasth A, Porras O. Human malignant osteopetrosis: pathophysiology, management and the role of bone marrow transplantation. Pediatr Transplant 1999;3:102-7.
3. Gerristen EJA, Vossen JM, Van Loo IHG, Hermanns J, Helfrich MH, Griscelli C et al. Autosomal recessive osteopetrosis: variability of findings at diagnosis and during the natural course. Pediatrics 1994;93:247-53.
4. Frattini A, Orchard PJ, Sobacchi C, Giuliani S, Abinun M, Mattson JP et al. Defects in TCIRG1 subunit of the vascular proton pump are responsible for a subset of human autosomal recessive osteopetrosis. Nat Genet 2000;25:343-6.
5. Flanagan AM, Sarma U, Steward CG, Vellodi A, Horton MA. Study of the nonresponsive phenotype of osteoclast-like cells from patients with malignant osteopetrisis: a new approach to investigating pathogenesis. J Bone Miner Res 2000;15:352-69.
6. +)- ATPases. J Biol Chem 1999;274:12951-4.
7. Väänänen KH, Zhao H, Mulari M, Halleen JM. The cell biology of osteoclast function. J Cell Sci 2000;113:377-81.
8. Curé JK, Lyndon LK, Goltra DD, Van Tassel P. Cranial MR imaging of osteopetrosis. Am J Neuroradiol 2000;21:1110-5.
9. Key L, Carnes D, Cole S, Holtrop M, Bar-Shavit Z, Shapiro F et al. Treatment of congenital osteopetrosis with high-dose calcitriol. N Engl J Med 1984;310:409-15.
10. Shepard RM, Horst RL, Hamstra AJ, DeLca HF. Determination of vitamin D and its metabolites in plasma from normal and anephric man. Biochem J 1979;182-55-69.
11. Sieff CA, Chessels JM, Levinsky RJ, Pritchard J, Rogers DW, Casey A et al. Allogeneic bone-marrow transplantation in infantile malignant osteopetrosis. Lancet 1983;1;437-41.
12. Coccia PF, Krevitt W, Cervenka J, Clawson C, Kersey JH, Kim TH et al. Successful bone-marrow transplantation for infantile malignant osteopetrosis. N Engl J Med 1980;302:701-8.
13. Key LL, Rodriguiz RM, Willi SM, Wright NM, Hatcher HC, Eyre DR et al. Long-term treatment of osteopetrosis with recombinant human interferon gamma. N Engl J Med 1995;332:1594-9.