Malignant Infantile Osteopetrosis & Primary Pulmonary Hypertension: A New Combination?

Pediatric Blood and Cancer

Volumn 42, Issue 2, 2004, Pages 190-194

  Kasow, Kimberly A ^a   Bonfim, Carmem ^b   Asch, Julie ^c   Margolis, David A ^d   Jenkins, Jesse ^a   Tamburro, Robert F ^a   Handgretinger, Rupert ^a   Horwitz, Edwin M ^a  

^a ST JUDE CHILDREN S RESEARCH HOSPITAL   (United States)

^b FEDERAL UNIVERSITY OF PARANÁ   (Brazil)

^c UNIVERSITY OF UTAH HEALTH SCIENCES CENTER   (United States)

^d MEDICAL COLLEGE OF WISCONSIN   (United States)

Author keywords

Hematopoietic stem cell transplantation; Malignant infantile osteopetrosis; Primary pulmonary hypertension

Indexed keywords

ALBERS SCHOENBERG DISEASE; ARTICLE; CANCER DIAGNOSIS; CELL FUNCTION; CLINICAL ARTICLE; DISEASE ASSOCIATION; HEMATOPOIETIC STEM CELL TRANSPLANTATION; HUMAN; INFANT; INFANTILE MALIGNANT OSTEOPETROSIS; LUNG PRESSURE; MALE; OSTEOCLAST; PRIORITY JOURNAL; PULMONARY HYPERTENSION;

EID: 0842268426     PISSN: 00981532     EISSN: None     Source Type: Journal    
DOI: 10.1002/pbc.10455     Document Type: Article

References (23)

1. Gerritsen EJ, Vossen JM, van Loo IG, et al. Autosomal recessive osteopetrosis: Variability of findings at diagnosis and during the natural course. Pediatrics 1994;93(2):247-253.
2. Arroliga AC, Dweik RA, Kaneko FJ, et al. Primary pulmonary hypertension: Update on pathogenesis and novel therapies. Cleve Clin J Med 2000;67(3):175-178, 181-185, 189-190.
3. Chatterjee K, De Marco T, Alpert JS. Pulmonary hypertension: Hemodynamic diagnosis and management. Arch Intern Med 2002;162(17):1925-1933.
4. Vaananen HK, Zhao H, Mulari M, et al. The cell biology of osteoclast function. J Cell Sci 2000;113:377-381.
5. Wilson CJ, Vellodi A. Autosomal recessive osteopetrosis: Diagnosis, management, and outcome. Arch Dis Child 2000;83:449-452.
6. Key LL, Jr., Rodriguiz RM, Willi SM, et al. Long-term treatment of osteopetrosis with recombinant human interferon gamma. N Engl J Med 1995;332:1594-1599.
7. Key L, Carnes D, Cole S, et al. Treatment of congenital osteopetrosis with high-dose calcitriol. N Engl J Med 1984;310:409-415.
8. Dorantes LM, Mejia AM, Dorantes S. Juvenile osteopetrosis: Effects on blood and bone of prednisone and a low calcium, high phosphate diet. Arch Dis Child 1986;61:666-670.
9. Fasth A, Porras O. Human malignant osteopetrosis: Pathophysiology, management, and the role of bone marrow transplantation. Pediatr Transplant 1999;3(Suppl 1):102-107.
10. Lowe N, Edwards YH, Edwards M, et al. Physical mapping of the human carbonic anhydrase gene cluster on chromosome 8. Genomics 1991;10(4):882-888.
11. Frattini A, Orchard PJ, 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;25:343-346.
12. Sobacchi C, Frattini A, Orchard P, et al. The mutational spectrum of human malignant autosomal recessive osteopetrosis. Hum Mol Genet 2001;10(17):1767-1773.
13. Cleiren E, Benichou O, van Hul E, et al. Albers-Schönberg disease (autosomal dominant osteopetrosis, type II): Results from mutations in the CICN7 chloride channel gene. Hum Mol Genet 2001;10(25):2861-2867.
14. Chalhoub N, Benachenhou N, Rajapurohitam V, et al. Grey-lethal mutation induces severe malignant autosomal recessive osteopetrosis in mouse and human. Nat Med 2003;9:399-406.
15. Lane KB, Machado RD, Pauciulo MW, et al. Heterozygous germline mutations in BMPR2, encoding a TGF-beta receptor, cause familial primary hypertension. The International PPH Consortium. Nat Genet 2000;26(1):81-84.
16. Morse JH. Bone morphogenetic protein receptor 2 mutations in pulmonary hypertension. Chest 2002;121:50S-53S.
17. Du L, Sullivan CC, Chu D, et al. Signaling molecules in nonfamilial pulmonary hypertension. N Engl J Med 2003;348(6): 500-509.
18. Dent CL, Fontan JJP. Long-term therapy for pulmonary hypertension in children. Curr Opin Pediatr 1999;11(3):218-222.
19. Carter M, Stokes D, Wang W. Severe obstructive sleep apnea in a child with osteopetrosis. Clin Pediatr 1988;27(2):108-110.
20. Orchard PJ, Dahl N, Aukerman SL, et al. Circulating macrophage colony-stimulating factor is not reduced in malignant osteopetrosis. Exp Hematol 1992;20(1):103-105.
21. Hawgood S, Akiyama J, Brown C, et al. GM-CSF mediates alveolar macrophage proliferation and type II cell hypertrophy in SP-D gene-targeted mice. Am J Physiol Lung Cell Mol Physiol 2001;280(6):L1148-L1156.
22. Huffman Reed JA, Rice WR, Zsengeller ZK, et al. GM-CSF enhances lung growth and causes alveolar type II epithelial cell hyperplasia in transgenic mice. Am J Physiol 1997;273(4 Pt 1): L715-L725.
23. Schoppet M, Preissner KT, Hofbauer LC. RANK ligand and osteoprotegerin: Paracrine regulators of bone metabolism and vascular function. Arterioscler Thromb Vasc Biol 2002;22(4): 549-553.