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Current Osteoporosis Reports

Erschienen in:

01.09.2014 | Pediatrics (M Leonard and L Ward, Section Editors)

Osteogenesis Imperfecta: Diagnosis and Treatment

verfasst von: A. Biggin, C. F. Munns

Erschienen in: Current Osteoporosis Reports | Ausgabe 3/2014

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Abstract

Osteogenesis imperfecta (OI) is a genetic bone fragility disorder characterized by low bone mass, skeletal deformity, and variable short stature. OI is predominantly caused by dominant mutations affecting type 1 collagen synthesis, with a number of other genes implicated in OI over recent years. The clinical severity of OI can vary greatly, even within families who share a common mutation. Optimal management of OI requires a multidisciplinary approach involving pediatrician, endocrinologist (bone and mineral physician), rehabilitation specialist, orthopedic surgeon, dentist, geneticist, social worker/psychologist, physiotherapist, and occupational therapist. Bisphosphonate therapy remains the mainstay of medical treatment in OI and has been shown to decrease bone pain, enhance well-being, improve muscle strength and mobility and decrease fracture incidence. Novel therapies are beginning to emerge as more is understood about the signaling pathways involved in bone formation. The following summarizes the diagnosis, genetic heterogeneity and management of OI in pediatric practice.

Sillence DO, Senn A, Danks DM. Genetic heterogeneity in osteogenesis imperfecta. J Med Genet. 1979;16(2):101–16.PubMedCentralCrossRefPubMed

Forlino A, Cabral WA, Barnes AM, Marini JC. New perspectives on osteogenesis imperfecta. Nat Rev Endocrinol. 2011;7(9):540–57.PubMedCentralPubMed

3.•

Cho TJ, Lee KE, Lee SK, Song SJ, Kim KJ, Jeon D, et al. A single recurrent mutation in the 5′-UTR of IFITM5 causes osteogenesis imperfecta type V. Am J Hum Genet. 2012;91(2):343–8. Reports a novel gene responsible for an OI phenotype.PubMedCentralCrossRefPubMed

Cheung MS, Glorieux FH, Rauch F. Natural history of hyperplastic callus formation in osteogenesis imperfecta type V. J Bone Miner Res. 2007;22(8):1181–6.CrossRefPubMed

Glorieux FH, Ward LM, Rauch F, Lalic L, Roughley PJ, Travers R. Osteogenesis imperfecta type VI: a form of brittle bone disease with a mineralization defect. J Bone Miner Res. 2002;17(1):30–8.CrossRefPubMed

6.•

Becker J, Semler O, Gilissen C, Li Y, Bolz HJ, Giunta C, et al. Exome sequencing identifies truncating mutations in human SERPINF1 in autosomal-recessive osteogenesis imperfecta. Am J Hum Genet. 2011;88(3):362–71. Reports a novel gene responsible for an OI phenotype.PubMedCentralCrossRefPubMed

Land C, Rauch F, Travers R, Glorieux FH. Osteogenesis imperfecta type VI in childhood and adolescence: effects of cyclical intravenous pamidronate treatment. Bone. 2007;40(3):638–44.PubMed

Ward LM, Rauch F, Travers R, Chabot G, Azouz EM, Lalic L, et al. Osteogenesis imperfecta type VII: an autosomal recessive form of brittle bone disease. Bone. 2002;31(1):12–8.PubMed

Morello R, Bertin TK, Chen Y, Hicks J, Tonachini L, Monticone M, et al. CRTAP is required for prolyl 3- hydroxylation and mutations cause recessive osteogenesis imperfecta. Cell. 2006;127(2):291–304.PubMed

10.•

Willaert A, Malfait F, Symoens S, Gevaert K, Kayserili H, Megarbane A, et al. Recessive osteogenesis imperfecta caused by LEPRE1 mutations: clinical documentation and identification of the splice form responsible for prolyl 3-hydroxylation. J Med Genet. 2009;46(4):233–41. Reports a novel gene responsible for an OI phenotype.PubMed

11.•

van Dijk FS, Nesbitt IM, Zwikstra EH, Nikkels PG, Piersma SR, Fratantoni SA, et al. PPIB mutations cause severe osteogenesis imperfecta. Am J Hum Genet. 2009;85(4):521–7. Reports a novel gene responsible for an OI phenotype.PubMedCentralPubMed

12.•

Christiansen HE, Schwarze U, Pyott SM, AlSwaid A, Al Balwi M, Alrasheed S, et al. Homozygosity for a missense mutation in SERPINH1, which encodes the collagen chaperone protein HSP47, results in severe recessive osteogenesis imperfecta. Am J Hum Genet. 2010;86(3):389–98. Reports a novel gene responsible for an OI phenotype.PubMedCentralPubMed

13.•

Lapunzina P, Aglan M, Temtamy S, Caparros-Martin JA, Valencia M, Leton R, et al. Identification of a frameshift mutation in Osterix in a patient with recessive osteogenesis imperfecta. Am J Hum Genet. 2010;87(1):110–4. Reports a novel gene responsible for an OI phenotype.PubMedCentralPubMed

14.•

Fahiminiya S, Majewski J, Mort J, Moffatt P, Glorieux FH, Rauch F. Mutations in WNT1 are a cause of osteogenesis imperfecta. J Med Genet. 2013;50(5):345–8. Reports a novel gene responsible for an OI phenotype.PubMed

15.•

Fahiminiya S, Majewski J, Al-Jallad H, Moffatt P, Mort J, Glorieux FH, et al. Osteoporosis caused by mutations in PLS3—clinical and bone tissue characteristics. J Bone Miner Res. 2014. doi:10.1002/jbmr.2208 Reports a novel gene responsible for an OI phenotype.

16.•

Martinez-Glez V, Valencia M, Caparros-Martin JA, Aglan M, Temtamy S, Tenorio J, et al. Identification of a mutation causing deficient BMP1/mTLD proteolytic activity in autosomal recessive osteogenesis imperfecta. Hum Mutat. 2012;33(2):343–50. Reports a novel gene responsible for an OI phenotype.PubMedCentralPubMed

17.

Ha-Vinh R, Alanay Y, Bank RA, Campos-Xavier AB, Zankl A, Superti-Furga A, et al. Phenotypic and molecular characterization of Bruck syndrome (osteogenesis imperfecta with contractures of the large joints) caused by a recessive mutation in PLOD2. Am J Med Genet A. 2004;131(2):115–20.PubMed

18.•

Volodarsky M, Markus B, Cohen I, Staretz-Chacham O, Flusser H, Landau D, et al. A deletion mutation in TMEM38B associated with autosomal recessive osteogenesis imperfecta. Hum Mutat. 2013;34(4):582–6. Reports a novel gene responsible for an OI phenotype.PubMed

19.•

Kelley BP, Malfait F, Bonafe L, Baldridge D, Homan E, Symoens S, et al. Mutations in FKBP10 cause recessive osteogenesis imperfecta and Bruck syndrome. J Bone Miner Res. 2011;26(3):666–72. Reports a novel gene responsible for an OI phenotype.PubMedCentralPubMed

20.

Warman ML, Cormier-Daire V, Hall C, Krakow D, Lachman R, LeMerrer M, et al. Nosology and classification of genetic skeletal disorders: 2010 revision. Am J Med Genet A. 2011;155A(5):943–68.PubMed

21.

Byers PH. Etiology of osteogenesis imperfecta: an overview of biochemical and molecular genetic analyses. Connect Tissue Res. 1995;31(4):257–9.PubMed

22.

Van Dijk FS, Sillence DO. Osteogenesis imperfecta: clinical diagnosis, nomenclature and severity assessment. Am J Med Genet A. 2014;8(10):36545.

23.

Ben Amor IM, Glorieux FH, Rauch F. Genotype-phenotype correlations in autosomal dominant osteogenesis imperfecta. J Osteoporos. 2011;2011:540178.PubMedCentralPubMed

24.

Misof K, Landis WJ, Klaushofer K, Fratzl P. Collagen from the osteogenesis imperfecta mouse model (oim) shows reduced resistance against tensile stress. J Clin Invest. 1997;100(1):40–5.PubMedCentralPubMed

25.

Rauch F, Travers R, Parfitt AM, Glorieux FH. Static and dynamic bone histomorphometry in children with osteogenesis imperfecta. Bone. 2000;26(6):581–9.PubMed

26.

Russell RGG, Bisaz S, Fleisch H, Currey HL, Rubinstein HM, Dietz AA, et al. Inorganic pyrophosphate in plasma, urine, and synovial fluid of patients with pyrophosphate arthropathy (chondrocalcinosis or pseudogout). Lancet. 1970;2(7679):899–902.PubMed

27.

Rogers MJ, Gordon S, Benford HL, Coxon FP, Luckman SP, Monkkonen J, et al. Cellular and molecular mechanisms of action of bisphosphonates. Cancer. 2000;88(12 Suppl):2961–78.PubMed

28.

Luckman SP, Hughes DE, Coxon FP, Russell RGG, Rogers MJ. Nitrogen-containing bisphosphonates inhibit the mevalonate pathway and prevent post-translational prenylation of GTP-binding proteins, including Ras. J Bone Miner Res. 1998;13(4):581–9.PubMed

29.

Green JR, Muller K, Jaeggi KA. Preclinical pharmacology of CGP 42′446, a new, potent, heterocyclic bisphosphonate compound. J Bone Miner Res. 1994;9(5):745–51.PubMed

30.

Chen T, Berenson J, Vescio R, Swift R, Gilchick A, Goodin S, et al. Pharmacokinetics and pharmacodynamics of zoledronic acid in cancer patients with bone metastases. J Clin Pharmacol. 2002;42(11):1228–36.PubMed

31.

Phillipi CA, Remmington T, Steiner RD. Bisphosphonate therapy for osteogenesis imperfecta. Cochrane Database Syst Rev. 2008;4, CD005088.PubMed

32.

Sillence DO, Morley K, Ault JE. Clinical management of osteogenesis imperfecta. Connect Tissue Res. 1995;31(4):S15–21.PubMed

33.

Devogelaer JP, Malghem J, Maldague B, Nagant de Deuxchaisnes C. Radiological manifestations of bisphosphonate treatment with APD in a child suffering from osteogenesis imperfecta. Skeletal Radiol. 1987;16(5):360–3.PubMed

34.

Glorieux FH, Bishop NJ, Plotkin H, Chabot G, Lanoue G, Travers R. Cyclic administration of pamidronate in children with severe osteogenesis imperfecta. N Engl J Med. 1998;339(14):947–52.PubMed

35.

Astrom E, Soderhall S. Beneficial effect of bisphosphonate during five years of treatment of severe osteogenesis imperfecta. Acta Paediatr. 1998;87(1):64–8.PubMed

36.

Plotkin H, Rauch F, Bishop NJ, Montpetit K, Ruck-Gibis J, Travers R, et al. Pamidronate treatment of severe osteogenesis imperfecta in children under 3 years of age. J Clin Endocrinol Metab. 2000;85(5):1846–50.PubMed

37.••

Alcausin MB, Briody J, Pacey V, Ault J, McQuade M, Bridge C, et al. Intravenous pamidronate treatment in children with moderate-to-severe osteogenesis imperfecta started under three years of age. Horm Res Paediatr. 2013;79(6):333–40. Reported that cyclic IV pamidronate started under 3 years of age improved bone density, reduced fracture frequency and resulted in attainment of motor milestones at an earlier age.PubMed

38.

Rauch F, Travers R, Plotkin H, Glorieux FH. The effects of intravenous pamidronate on the bone tissue of children and adolescents with osteogenesis imperfecta. J Clin Invest. 2002;110(9):1293–9.PubMedCentralPubMed

39.

Shapiro JR, McCarthy EF, Rossiter K, Ernest K, Gelman R, Fedarko N, 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):103–12.PubMed

40.

Barros ER, Saraiva GL, de Oliveira TP, Lazaretti-Castro M. Safety and efficacy of a 1-year treatment with zoledronic acid compared with pamidronate in children with osteogenesis imperfecta. J Pediatr Endocrinol Metab. 2012;25(5–6):485–91.PubMed

41.

Sakkers R, Kok D, Engelbert R, van Dongen A, Jansen M, Pruijs H, et al. Skeletal effects and functional outcome with olpadronate in children with osteogenesis imperfecta: a 2-year randomised placebo-controlled study. Lancet. 2004;363(9419):1427–31.PubMed

42.

Rauch F, Munns CF, Land C, Cheung M, Glorieux FH. Risedronate in the treatment of mild pediatric osteogenesis imperfecta: a randomized placebo-controlled study. J Bone Miner Res. 2009;24(7):1282–9.PubMed

43.

Ward LM, Rauch F, Whyte MP, D’Astous J, Gates PE, Grogan D, et al. Alendronate for the treatment of pediatric osteogenesis imperfecta: a randomized placebo-controlled study. J Clin Endocrinol Metab. 2011;96(2):355–64.PubMed

44.••

Bishop N, Adami S, Ahmed SF, AntÛn J, Arundel P, Burren CP, et al. Risedronate in children with osteogenesis imperfecta: a randomised, double-blind, placebo-controlled trial. Lancet. 2013. doi:10.1016/S0140-6736(13)61091-0 Reported that oral risedronate increased areal BMD and reduced risk of first and recurrent clinical fractures in children with OI.

45.

Rauch F, Cornibert S, Cheung M, Glorieux FH. Long-bone changes after pamidronate discontinuation in children and adolescents with osteogenesis imperfecta. Bone. 2007;40(4):821–7.PubMed

46.

Biggin A, Zheng L, Briody J, McQuade M, Munns CF. Long-term effects of bisphosphonate therapy in children with osteogenesis imperfecta. Bone. 2013;2:OP13. Abstracts.

47.

Tanvetyanon T, Stiff PJ. Management of the adverse effects associated with intravenous bisphosphonates. Ann Oncol. 2006;17(6):897–907.PubMed

48.

Bachrach LK, Ward LM. Clinical review 1: bisphosphonate use in childhood osteoporosis. J Clin Endocrinol Metab. 2009;94(2):400–9.PubMed

49.

Rossini M, Adami S, Viapiana O, Ortolani R, Vella A, Fracassi E, et al. Circulating gammadelta T cells and the risk of acute-phase response after zoledronic acid administration. J Bone Min Res. 2012;27(1):227–30.

50.

Robinson RE, Nahata MC, Hayes JR, Batisky DL, Bates CM, Mahan JD. Effectiveness of pretreatment in decreasing adverse events associated with pamidronate in children and adolescents. Pharmacotherapy. 2004;24(2):195–7.PubMed

51.

Rauch F, Plotkin H, Travers R, Zeitlin L, Glorieux FH. Osteogenesis imperfecta types I, III, and IV: effect of pamidronate therapy on bone and mineral metabolism. J Clin Endocrinol Metab. 2003;88(3):986–92.PubMed

52.

Munns CF, Rauch F, Mier RJ, Glorieux FH. Respiratory distress with pamidronate treatment in infants with severe osteogenesis imperfecta. Bone. 2004;35(1):231–4.PubMed

53.

Zeitlin L, Rauch F, Plotkin H, Glorieux FH. Height and weight development during four years of therapy with cyclical intravenous pamidronate in children and adolescents with osteogenesis imperfecta types I, III, and IV. Pediatrics. 2003;111(5 Pt 1):1030–6.PubMed

54.

Whyte MP, Wenkert D, Clements KL, McAlister WH, Mumm S. Bisphosphonate-induced osteopetrosis. N Engl J Med. 2003;349(5):457–63.PubMed

55.

Biggin A, Briody JN, Ormshaw E, Wong KK, Bennetts BH, Munns CF. Fracture during intravenous bisphosphonate treatment in a child with osteogenesis imperfecta: an argument for a more frequent, low-dose treatment regimen. Horm Res Paediatr. 2014;81(3):204–10.PubMed

56.

Munns CF, Rauch F, Zeitlin L, Fassier F, Glorieux FH. Delayed osteotomy but not fracture healing in pediatric osteogenesis imperfecta patients receiving pamidronate. J Bone Miner Res. 2004;19(11):1779–86.PubMed

57.

Chahine C, Cheung MS, Head TW, Schwartz S, Glorieux RH, Rauch F. Tooth extraction socket healing in paediatric patients treated with intravenous pamidronate. J Pediatr. 2008;153(5):719–20.PubMed

58.••

Bhatt RN, Hibbert SA, Munns CF. The use of bisphosphonates in children: review of the literature and guidelines for dental management. Aust Dent J. 2014;59(1):9–19. Reports the pediatric uses and adverse effects of bisphosphonates and provides recommendations on the dental management of children receiving bisphosphonates.PubMed

59.

Pazianas M, Abrahamsen B. Safety of bisphosphonates. Bone. 2011;49(1):103–10.PubMed

60.

Munns CF, Rauch F, Ward L, Glorieux FH. Maternal and fetal outcome after long-term pamidronate treatment before conception: a report of two cases. J Bone Miner Res. 2004;19(10):1742–5.PubMed

61.

Djokanovic N, Klieger-Grossmann C, Koren G. Does treatment with bisphosphonates endanger the human pregnancy? J Obstetrics Gynaecol Can. 2008;30(12):1146–8.

62.

Binder H, Conway A, Gerber LH. Rehabilitation approaches to children with osteogenesis imperfecta: a ten-year experience. Arch Phys Med Rehabil. 1993;74(4):386–90.PubMed

63.

Bleck EE. Nonoperative treatment of osteogenesis imperfecta: orthotic and mobility management. Clin Orthop Relat Res. 1981;159:111–22.PubMed

64.

Engelbert RH, Uiterwaal CS, Gerver WJ, van der Net JJ, Pruijs HE, Helders PJ. Osteogenesis imperfecta in childhood: impairment and disability. A prospective study with 4-year follow-up. Arch Phys Med Rehabil. 2004;85(5):772–8.PubMed

65.

Semler O, Fricke O, Vezyroglou K, Stark C, Schoenau E. Preliminary results on the mobility after whole body vibration in immobilized children and adolescents. J Musculoskelet Nueronal Interact. 2007;7(1):77–81.

66.

Ruck J, Dahan-Oliel N, Montpetit K, Rauch F, Fassier F. Fassier-Duval femoral rodding in children with osteogenesis imperfecta receiving bisphosphonates: functional outcomes at one year. J Child Orthop. 2011;5(3):217–24.PubMedCentralPubMed

67.

Birke O, Davies N, Latimer M, Little DG, Bellemore M. Experience with the Fassier-Duval telescopic rod: first 24 consecutive cases with a minimum of 1-year follow-up. J Pediatr Orthop. 2011;31(4):458–64.PubMed

68.

Esposito P, Plotkin H. Surgical treatment of osteogenesis imperfecta: current concepts. Curr Opin Pediatr. 2008;20(1):52–7.PubMed

69.

Janus GJ, Finidori G, Engelbert RH, Pouliquen M, Pruijs JE. Operative treatment of severe scoliosis in osteogenesis imperfecta: results of 20 patients after halo traction and posterior spondylodesis with instrumentation. Eur Spine J. 2000;9(6):486–91.PubMedCentralPubMed

70.

Sawin PD, Menezes AH. Basilar invagination in osteogenesis imperfecta and related osteochondrodysplasias: medical and surgical management. J Neurosurg. 1997;86(6):950–60.PubMed

71.

Chiasson RM, Munns C, Zeitlin L. Interdisciplinary treatment approach for children with osteogenesis imperfecta: Shriners Hospitals for Children; 2004.

72.•

Semler O, Netzer C, Hoyer-Kuhn H, Becker J, Eysel P, Schoenau E. First use of the RANKL antibody denosumab in Osteogenesis Imperfecta Type VI. J Musculoskelet Nueronal Interact. 2012;12(3):183–8. Reported that denosumab was well tolerated and reversibly reduced bone resorption in children with OI type VI. Denosumab may be a new treatment option for patients with OI Type VI.

73.

Sinder BP, Eddy MM, Ominsky MS, Caird MS, Marini JC, Kozloff KM. Sclerostin antibody improves skeletal parameters in a Brtl/+mouse model of osteogenesis imperfecta. JBMR. 2013;28(1):73–80.

74.

Millington-Ward S, McMahon HP, Farrar GJ. Emerging therapeutic approaches for osteogenesis imperfecta. Trends Mol Med. 2005;11(6):299–305.PubMed

Titel: Osteogenesis Imperfecta: Diagnosis and Treatment
verfasst von: A. Biggin
C. F. Munns
Publikationsdatum: 01.09.2014
Verlag: Springer US
Erschienen in: Current Osteoporosis Reports / Ausgabe 3/2014
Print ISSN: 1544-1873
Elektronische ISSN: 1544-2241
DOI: https://doi.org/10.1007/s11914-014-0225-0

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