Human malignant osteopetrosis: Pathophysiology, management anti the role of bone marrow transplantation

Pediatric Transplantation

Volumn 3, Issue SUPPL. 1, 1999, Pages 102-107

  Fasth, Anders ^a,c   Porras, Oscar ^b  

^a UNIVERSITY OF GOTHENBURG   (Sweden)

^b National Children's Hospital   (Costa Rica)

^c SAHLGRENSKA UNIVERSITY HOSPITAL   (Sweden)

Author keywords

Bone marrow transplantation; Osteoclasts; Osteopetrosis

Indexed keywords

COLONY STIMULATING FACTOR 1; CYTOKINE; GRANULOCYTE MACROPHAGE COLONY STIMULATING FACTOR;

ALBERS SCHOENBERG DISEASE; ANIMAL EXPERIMENT; ANIMAL MODEL; AUTOSOMAL RECESSIVE DISORDER; BONE MARROW TRANSPLANTATION; BONE REMODELING; CLINICAL FEATURE; CONFERENCE PAPER; CONTROLLED STUDY; HLA SYSTEM; HUMAN; MOUSE; NONHUMAN; OSTEOCLAST; PATHOPHYSIOLOGY; SURVIVAL; T LYMPHOCYTE;

ANIMALS; BONE MARROW TRANSPLANTATION; CHILD; CHILD, PRESCHOOL; CLINICAL TRIALS; DISEASE MODELS, ANIMAL; GRAFT SURVIVAL; HUMANS; MICE; OSTEOCLASTS; OSTEOPETROSIS; PROGNOSIS; RATS; SEVERITY OF ILLNESS INDEX; TRANSPLANTATION, AUTOLOGOUS; TREATMENT OUTCOME;

EID: 0032696855     PISSN: 13973142     EISSN: None     Source Type: Journal    
DOI: 10.1034/j.1399-3046.1999.00063.x     Document Type: Conference Paper

References (29)

1. POPOFF SN, SCHNEIDER GB. Animal models of osteopetrosis: the impact of recent molecular developments on novel strategies for therapeutic intervention. Mol Med Today 1996: 8: 349-358.
2. MOSTOV K, WERB Z. Journey across the osteoclast. Science 1997: 276: 219-220.
3. STANLEY E, LIESCHKE GJ, GRAIL D, et al. Granulocyte/ macrophage colony-stimulating factor-deficient mice show no major perturbation of hematopoiesis but develop a characteristic pulmonary pathology. Proc Natl Acad Sci USA 1994: 91: 5592-5596.
4. POLLARD JW. Role of colony-stimulating factor-1 in reproduction and development. Mol Rev Devel 1997: 46: 54-60.
5. NILSSON SK, LIESCHKE GJ, GARCIA-WIJNEN CC, et al. Granulocyte-macrophage colony-stimulating factor is not responsible for the correction of hematopoietic deficiencies in the maturing op/op mouse. Blood 1994: 86: 66-72.
6. 3 binding protein to a macrophage activating factor by the stepwise action of β-galactosidase of B cells and sialidase of T cells. J Immunol 1993: 151: 2794-2802.
7. YAMAMOTO N, LINDSAY DD, NARAPARAJU VR, IRELAND RA, POPOFF SN. A defect in the inflammatory-primed activation cascade in osteopetrotic rats. J Immunol 1994: 152: 5100-5107.
8. POPOFF SN, SCNEIDER GB. Conversion of the vitamin D binding protein to a macrophage activating factor: associated defects in osteopetrotic mutations. In: NORMAN AW, BOULLION R, THOMASSET M, eds. Vitamin D - A Pleuropotent Steroid Hormone: Structural Studies, Molecular Endocrinology and Clinical Applications. Walter DeGruyter, Berlin, 1994. pp. 693-701.
9. SCNEIDER GB, BENIS KA, FLAY NW, IRELAND RA, POPOFF SN. Effects of vitamin D bining protein-macrophage activating factor (DBF-MAF) infusion on bone resorption in two osteopetrotic mutations. Bone 1995: 16: 657-662.
10. SORIANO P, MONTGOMERY C, GESKE R, BRADLEY A. Targeted disruption of the c-src proto-oncogene leads to osteopetrosis in mice. Cell 1991: 64: 693-702.
11. c-src expression for osteoclasts to form ruffled borders and resorb bone in mice. J Clin Invest 1992: 90: 1622-1627.
12. BOYCE BF, CHEN H, SORIANO P, MUNDY GR. Histomorphometric and immunocytochemical studies of src-related osteopetrosis. Bone 1993: 14: 335-340.
13. c-src, preferentially on ruffled border membranes. FEBS Lett 1992: 313: 85-89.
14. GRIGORIADIS AE, WANG ZQ, WAGNER EF. Fos and bone cell development: lessons from a nuclear oncogene. Trends Genet 1995: 11: 436-441.
15. GRIGORIADIS AE, WANG ZQ, CECCHINI MG, et al. C-Fos: a key regulator of osteoclast-macrophage lineage determination and bone remodeling. Science 1994: 266: 443-448.
16. IOTSOVA V, CAAMANO J, LOY J, YANG Y, LEWIN A, BRAVO R. Osteopetrosis in mice lacking NF-kappaB1 and NF-kappaB2. Nature Med 1997: 3: 1285-1289.
17. FRANZOSO G, CARLSON L, XING L, et al. Requirement for NF-kappaB in osteoclast and B-cell development. Genes Devel 1997: 11: 3482-3496.
18. JIMI E, NAKAMURA I, IKEBE T, AKIYAMA S, TAKAHASHI N, SUDA T. Activation of NF-kappaB is involved in the survival of osteoclasts promoted by interleukin-1. J Biol Chem 1998: 273: 8799-8805.
19. SIMONET WS, LACEY DL, DUNSTAN CR, et al. Osteoprotegerin: a novel secreted protein involved in the regulation of bone density. Cell 1997: 89: 309-319.
20. BUCAY N, SAROSI I, DUNSTAN CR, et al. Osteoprotegerin-deficient mice develop early onset osteoporosis and arterial calcification. Genes Devel 1998: 12: 1260-1268.
21. LACEY DL, TIMMS E, TAN HL, et al. Osteoprotegerin ligand is a cytokine that regulates osteoclast differentiation and activation. Cell 1998: 93: 165-176.
22. TSUKII K, SHIMA N, MOCHIZUKI S, et al. Osteoclast differentiation factor mediates an essential signal for bone resorption induced by 1 alpha,25-dihydroxyvitamin D3, prostaglandin E2, or parathyroid hormone in the microenvironment of bone. Biochem Biophys Res Commun 1888: 246: 337-341.
23. SLY WS, WHYTE MP, SUNDARAM V, et al. Carbonic anhydrase II deficiency in 12 families with the autosomal recessive syndrome of osteopetrosis with renal tubular acidosis and cerebral calcification. N Engl J Med 1985: 313: 139-145.
24. ALBERS-SCHÖNBERG H. Röntgenbilder einer seltenen Knochenerkranung. Munch Med Wochenschr 1904: 51: 365-368.
25. ELIZONDO J, BERNINI R, DONAHUGH DL. Osteopetrosis maligna en Costa Rica. Acta Med Cost 1969: 12: 85-104.
26. LORÍA CORTES R, QUESADA CALVO E, CORDERO CHAVERI C. Osteopetrosis in children. A report of 26 cases. J Pediatr 1977: 91: 43-47.
27. COCCIA PF, KREVITT W, CERVENKA J, et al. Successful bone-marrow transplantation for infantile malignant osteopetrosis. N Engl J Med 1980: 302: 701-708.
28. GERRITSEN EJA, VOSSEN JM, FASTH A, et al. Bone marrow transplantation for autosomal recessive osteopetrosis. A report from the Working Party on Inborn Errors of the European Bone Marrow Transplantation Group. J Pediatr 1994: 125: 896-902.
29. KEY LL, RODRIGUIZ RM, WILLI SM, et al. Long-term treatment of osteopetrosis with recombinant human interferon gamma. N Engl J Med 1995: 332: 1594-1599.