Oesteogenesis imperfecta: Genetics, diagnosis and medical treatment;Osteogenesis imperfecta - Genetik, diagnostik og medicinsk behandling

Ugeskrift for Laeger

Volumn 169, Issue 1, 2007, Pages 30-34

  Brixen, Kim T ^a   Illum, Niels O ^b   Hansen, Birgitte ^b   Lund, Allan Meldgaard ^b   Mosekilde, Leif ^b  

^a ODENSE UNIVERSITY HOSPITAL   (Denmark)

^b NONE

Author keywords

[No Author keywords available]

Indexed keywords

BISPHOSPHONIC ACID DERIVATIVE; COLLAGEN TYPE 1; PAMIDRONIC ACID; PROTEIN COL1A1; PROTEIN COL1A2; UNCLASSIFIED DRUG;

BONE MARROW TRANSPLANTATION; CLINICAL FEATURE; DIAGNOSTIC TEST; DISEASE SEVERITY; FRACTURE; GENE MUTATION; GENETIC ANALYSIS; GENETIC CODE; GENOTYPE; HUMAN; INCIDENCE; NONHUMAN; OSTEOGENESIS IMPERFECTA; PHENOTYPE; REVIEW;

ADULT; BONE DENSITY CONSERVATION AGENTS; CHILD; COLLAGEN TYPE I; DIPHOSPHONATES; GENOTYPE; HUMANS; OSTEOGENESIS IMPERFECTA; PHENOTYPE;

EID: 33846061713     PISSN: 00415782     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Review

References (40)

1. Andersen PE Jr., Hauge M. Osteogenesis imperfecta: a genetic, radiological, and epidemiological study. Clin Genet 1989;36:250-5.
2. Roughley PJ, Rauch F, Glorieux FH. Osteogenesis imperfecta - clinical and molecular diversity. Eur Cell Mater 2003;5:41-7; discussion 47.
3. Lund AM, Nicholls AC, Schwartz M et al. Parental mosaicism and autosomal dominant mutations causing structural abnormalities of collagen I are frequent in families with osteogenesis imperfecta type III/IV. Acta Paediatr 1997;86:711-8.
4. Lund AM, Skovby F, Schwartz M. Serine for glycine substitutions in the C-terminal third of the alpha 1(I) chain of collagen I in five patients with nonlethal osteogenesis imperfecta. Hum Mutat 1997;9:378-82.
5. Prockop DJ, Constantinou CD, Dombrowski KE et al. Type I procollagen: the gene-protein system that harbors most of the mutations causing osteogenesis imperfecta and probably more common heritable disorders of connective tissue. Am J Med Genet 1989;34:60-7.
6. Lund AM. Biokemiske og molekylærgenetiske studier ved osteogenesis imperfecta (OI). Ugeskr Læger 2002;164:5668.
7. Lund AM, Molgaard C, Muller J et al. Bone mineral content and collagen defects in osteogenesis imperfecta. Acta Paediatr 1999; 88:1083-8.
8. Rauch F, Travers R, Parfitt AM et al. Static and dynamic bone histomorphometry in children with osteogenesis imperfecta. Bone 2000; 26:581-9.
9. Horwitz EM, Prockop DJ, Fitzpatrick LA et al. Transplantability and therapeutic effects of bone marrow-derived mesenchymal cells in children with osteogenesis imperfecta. Nat Med 1999;5:309-13.
10. Horwitz EM, Prockop DJ, Gordon PL et al. Clinical responses to bone marrow transplantation in children with severe osteogenesis imperfecta. Blood 2001;97:1227-31.
11. Horwitz EM, Gordon PL, Koo WK et al. Isolated allogeneic bone marrow-derived mesenchymal cells engraft and stimulate growth in children with osteogenesis imperfecta: implications for cell therapy of bone. Proc Natl Acad Sci U S A 2002;99:8932-7.
12. Cabral WA, Marini JC. High proportion of mutant osteoblasts is compatible with normal skeletal function in mosaic carriers of osteogenesis imperfecta. Am J Hum Genet 2004;74:752-60.
13. Chamberlain JR, Schwarze U, Wang PR et al. Gene targeting in stem cells from individuals with osteogenesis imperfecta. Science 2004;303:1198-201.
14. Baron R, Gertner JM, Lang R et al. Increased bone turnover with decreased bone formation by osteoblasts in children with osteogenesis imperfecta tarda. Pediatr Res 1983;17:204-7.
15. Brenner RE, Vetter U, Bollen AM et al. Bone resorption assessed by immunoassay of urinary cross-linked collagen peptides in patients with osteogenesis imperfecta. J Bone Miner Res 1994;9:993-7.
16. Huaux JP, Lokietek W. Is APD a promising drug in the treatment of severe osteogenesis imperfecta? J Pediatr Orthop 1988;8:71-2.
17. Plotkin H, Rauch F, Bishop NJ et al. Pamidronate treatment of severe osteogenesis imperfecta in children under 3 years of age. J Clin Endocrinol Metab 2000;85:1846-50.
18. Astrom E, Soderhall S. Beneficial effect of bisphosphonate during five years of treatment of severe osteogenesis imperfecta. Acta Paediatr 1998;87:64-8.
19. Munns CF, Rauch F, Travers R et al. Effects of intravenous pamidronate treatment in infants with osteogenesis imperfecta: clinical and histomorphometric outcome. J Bone Miner Res 2005;20:1235-43.
20. Zacharin M, Bateman J. Pamidronate treatment of osteogenesis imperfecta - lack of correlation between clinical severity, age at onset of treatment, predicted collagen mutation and treatment response. J Pediatr Endocrinol Metab 2002;15:163-74.
21. Dimeglio LA, Ford L, McClintock C et al. A comparison of oral and intravenous bisphosphonate therapy for children with osteogenesis imperfecta. J Pediatr Endocrinol Metab 2005;18:43-53.
22. Glorieux FH, Bishop NJ, Plotkin H et al. Cyclic administration of pamidronate in children with severe osteogenesis imperfecta. N Engl J Med 1998;339:947-52.
23. Sakkers R, Kok D, Engelbert R et al. Skeletal effects and functional outcome with olpadronate in children with osteogenesis imperfecta: a 2-year randomised placebo-controlled study. Lancet 2004;363:1427-31.
24. Arikoski P, Silverwood B, Tillmann V et al. Intravenous pamidronate treatment in children with moderate to severe osteogenesis imperfecta: assessment of indices of dual-energy X-ray absorptiometry and bone metabolic markers during the first year of therapy. Bone 2004;34:539-46.
25. Letocha AD, Cintas HL, Troendle JF et al. Controlled trial of pamidronate in children with types III and IV osteogenesis imperfecta confirms vertebral gains but not short-term functional improvement. J Bone Miner Res 2005;20(6):977-986.
26. Cho TJ, Choi IH, Chung CY et al. Efficacy of oral alendronate in children with osteogenesis imperfecta. J Pediatr Orthop 2005; 25(5):607-612.
27. Gatti D, Antoniazzi F, Prizzi R et al. Intravenous neridronate in children with osteogenesis imperfecta: a randomized controlled study. J Bone Miner Res 2005; 20(5):758-763.
28. Zacharin M, Kanumakala S. Pamidronate treatment of less severe forms of osteogenesis imperfecta in children. J Pediatr Endocrinol Metab 2004; 17(11):1511-1517.
29. Adam S, Colapietro F, Fracassi E et al. Intravenous neridronate in adults with osteogenesis imperfecta. J Bone Minera Res 2003;18:126-30 .
30. Gatti D, Viapiana O, Lippolis I et al. Intravenous bisphosphonate therapy increases radial width in adults with osteogenesis imperfecta. J Bone Miner Res 2005; 20(8):1323-1326.
31. Rauch F, Travers R, Plotkin H et al. The effects of intravenous pamidronate on the bone tissue of children and adolescents with osteogenesis imperfecta. J Clin Invest 2002; 110(9):1293-1299.
32. Shapiro JR, McCarthy EF, Rossiter K et al. The effect of intravenous pamidronate on bone mineral density, bone histomorphometry, and parameters of bone turnover in adults with type IA osteogenesis imperfecta. Calcif Tissue Int 2003; 72(2):103-112.
33. Munns CF, Rauch F, Mier RJ et al. Respiratory distress with pamidronate treatment in infants with severe osteogenesis imperfecta. Bone 2004;35:231-4.
34. Whyte MP, Wenkert D, Clements KL et al. Bisphosphonate-induced osteopetrosis. N Engl J Med 2003;349:457-63.
35. Marini JC. Do bisphosphonates make children's bones better or brittle? N Engl J Med 2003;349:423-6.
36. Imani P, Vijayasekaran S, Lannigan F. Is it necessary to screen for hearing loss in the paediatric population with osteogenesis imperfecta? Clin Otolaryngol 2003;28:199-202.
37. Kuurila K, Pynnonen S, Grenman R. Stapes surgery in osteogenesis imperfecta in Finland. Ann Otol Rhinol Laryngol 2004;113:187-93.
38. Van der Rijt AJ, Cremers CW. Stapes surgery in osteogenesis imperfecta: results of a new series. Otol Neurotol 2003;24:717-22.
39. Garretsen TJ, Cremers CW. Ear surgery in osteogenesis imperfecta. Clinical findings and short-term and long-term results. Arch Otolaryngol Head Neck Surg 1990;116:317-23.
40. Pedersen U, Elbrond O. Stapedectomy in osteogenesis imperfecta. ORL J Otorhinolaryngol Relat Spec 1983;45:330-7.