Skip to main content
Erschienen in: Wiener Medizinische Wochenschrift 13-14/2015

01.07.2015 | main topic

Osteogenesis imperfecta: pathophysiology and treatment

verfasst von: Heike Hoyer-Kuhn, Christian Netzer, Oliver Semler

Erschienen in: Wiener Medizinische Wochenschrift | Ausgabe 13-14/2015

Einloggen, um Zugang zu erhalten

Summary

Osteogenesis imperfecta is a rare hereditary disease mostly caused by mutations impairing collagen synthesis and modification. Recently recessive forms have been described influencing differentiation and activity of osteoblasts and osteoclasts. Most prominent signs are fractures due to low traumata and deformities of long bones and vertebrae. Additional patients can be affected by dwarfism, scoliosis Dentinogenesis imperfecta, deafness and a blueish discoloration of the sclera. During childhood state of the art medical treatment are i.v. bisphosphonates to increase bone mass and to reduce fracture rate. Surgical interventions are needed to treat fractures, to correct deformities and should always be accompanied by physiotherapeutic and rehabilitative interventions.
Literatur
2.
Zurück zum Zitat Schramm T, et al. Prenatal sonographic diagnosis of skeletal dysplasias. Ultrasound Obstet Gynecol. 2009;34(2):160–70.PubMedCrossRef Schramm T, et al. Prenatal sonographic diagnosis of skeletal dysplasias. Ultrasound Obstet Gynecol. 2009;34(2):160–70.PubMedCrossRef
3.
Zurück zum Zitat Pontz BF, Stoss H, Spranger J. Heterogeneity in osteogenesis imperfecta: clinical and morphological findings. Ann N Y Acad Sci. 1988;543:30–9.PubMedCrossRef Pontz BF, Stoss H, Spranger J. Heterogeneity in osteogenesis imperfecta: clinical and morphological findings. Ann N Y Acad Sci. 1988;543:30–9.PubMedCrossRef
4.
Zurück zum Zitat Anissipour AK, et al. Behavior of scoliosis during growth in children with osteogenesis imperfecta. J Bone Joint Surg Am. 2014;96(3):237–43.PubMedCrossRef Anissipour AK, et al. Behavior of scoliosis during growth in children with osteogenesis imperfecta. J Bone Joint Surg Am. 2014;96(3):237–43.PubMedCrossRef
5.
Zurück zum Zitat Karbowski A, Schwitalle M, Eckardt A. [Scoliosis in patients with osteogenesis imperfecta: a federal nation-wide cross-sectional study]. Z Orthop Ihre Grenzgeb. 1999;137(3):219–22.PubMedCrossRef Karbowski A, Schwitalle M, Eckardt A. [Scoliosis in patients with osteogenesis imperfecta: a federal nation-wide cross-sectional study]. Z Orthop Ihre Grenzgeb. 1999;137(3):219–22.PubMedCrossRef
6.
Zurück zum Zitat Kaiser-Kupfer MI, et al. Correlation of ocular rigidity and blue sclerae in osteogenesis imperfecta. Trans Ophthalmol Soc U K. 1985;104(Pt. 2):191–5.PubMed Kaiser-Kupfer MI, et al. Correlation of ocular rigidity and blue sclerae in osteogenesis imperfecta. Trans Ophthalmol Soc U K. 1985;104(Pt. 2):191–5.PubMed
7.
Zurück zum Zitat Devaraju D, et al. Dentinogenesis imperfecta type I: a case report with literature review on nomenclature system. J Oral Maxillofac Pathol. 2014;18(Suppl. 1):131–4.CrossRef Devaraju D, et al. Dentinogenesis imperfecta type I: a case report with literature review on nomenclature system. J Oral Maxillofac Pathol. 2014;18(Suppl. 1):131–4.CrossRef
8.
9.
Zurück zum Zitat Semler O, et al. A mutation in the 5ʹ-UTR of IFITM5 creates an in-frame start codon and causes autosomal-dominant osteogenesis imperfecta type V with hyperplastic callus. Am J Hum Genet. 2012;91(2):349–57.PubMedCentralPubMedCrossRef Semler O, et al. A mutation in the 5ʹ-UTR of IFITM5 creates an in-frame start codon and causes autosomal-dominant osteogenesis imperfecta type V with hyperplastic callus. Am J Hum Genet. 2012;91(2):349–57.PubMedCentralPubMedCrossRef
10.
11.
Zurück zum Zitat Glorieux FH, et al. Type V osteogenesis imperfecta: a new form of brittle bone disease. J Bone Miner Res. 2000;15(9):1650–8.PubMedCrossRef Glorieux FH, et al. Type V osteogenesis imperfecta: a new form of brittle bone disease. J Bone Miner Res. 2000;15(9):1650–8.PubMedCrossRef
12.
Zurück zum Zitat Farber CR, et al. A novel IFITM5 mutation in severe atypical osteogenesis imperfecta type VI impairs osteoblast production of pigment epithelium-derived factor. J Bone Miner Res. 2014;29:1402–11.PubMedCentralPubMedCrossRef Farber CR, et al. A novel IFITM5 mutation in severe atypical osteogenesis imperfecta type VI impairs osteoblast production of pigment epithelium-derived factor. J Bone Miner Res. 2014;29:1402–11.PubMedCentralPubMedCrossRef
13.
Zurück zum Zitat Becker J, et al. Exome sequencing identifies truncating mutations in human SERPINF1 in autosomal-recessive osteogenesis imperfecta. Am J Hum Genet. 2011;88(3):362–71.PubMedCentralPubMedCrossRef Becker J, et al. Exome sequencing identifies truncating mutations in human SERPINF1 in autosomal-recessive osteogenesis imperfecta. Am J Hum Genet. 2011;88(3):362–71.PubMedCentralPubMedCrossRef
14.
Zurück zum Zitat Rauch F, et al. Lack of circulating pigment epithelium-derived factor is a marker of osteogenesis imperfecta type VI. J Clin Endocrinol Metab. 2012;97(8):E1550–6.PubMedCrossRef Rauch F, et al. Lack of circulating pigment epithelium-derived factor is a marker of osteogenesis imperfecta type VI. J Clin Endocrinol Metab. 2012;97(8):E1550–6.PubMedCrossRef
15.
Zurück zum Zitat Land C, et al. Effect of intravenous pamidronate therapy on functional abilities and level of ambulation in children with osteogenesis imperfecta. J Pediatr. 2006;148(4):456–60.PubMedCrossRef Land C, et al. Effect of intravenous pamidronate therapy on functional abilities and level of ambulation in children with osteogenesis imperfecta. J Pediatr. 2006;148(4):456–60.PubMedCrossRef
16.
Zurück zum Zitat Sumnik Z, et al. Effect of pamidronate treatment on vertebral deformity in children with primary osteoporosis. A pilot study using radiographic morphometry. Horm Res. 2004;61(3):137–42.PubMedCrossRef Sumnik Z, et al. Effect of pamidronate treatment on vertebral deformity in children with primary osteoporosis. A pilot study using radiographic morphometry. Horm Res. 2004;61(3):137–42.PubMedCrossRef
17.
Zurück zum Zitat Glorieux FH, et al. Cyclic administration of pamidronate in children with severe osteogenesis imperfecta. N Engl J Med. 1998;339(14):947–52.PubMedCrossRef Glorieux FH, et al. Cyclic administration of pamidronate in children with severe osteogenesis imperfecta. N Engl J Med. 1998;339(14):947–52.PubMedCrossRef
18.
Zurück zum Zitat Gatti D, et al. Intravenous neridronate in children with osteogenesis imperfecta: a randomized controlled study. J Bone Miner Res. 2005;20(5):758–63.PubMedCrossRef Gatti D, et al. Intravenous neridronate in children with osteogenesis imperfecta: a randomized controlled study. J Bone Miner Res. 2005;20(5):758–63.PubMedCrossRef
19.
Zurück zum Zitat Maines E, et al. Children and adolescents treated with neridronate for osteogenesis imperfecta show no evidence of any osteonecrosis of the jaw. J Bone Miner Metab. 2011;30:434–8.PubMedCrossRef Maines E, et al. Children and adolescents treated with neridronate for osteogenesis imperfecta show no evidence of any osteonecrosis of the jaw. J Bone Miner Metab. 2011;30:434–8.PubMedCrossRef
20.
Zurück zum Zitat Bishop N, et al. Risedronate in children with osteogenesis imperfecta: a randomised, double-blind, placebo-controlled trial. Lancet. 2013;382(9902):1424–32.PubMedCrossRef Bishop N, et al. Risedronate in children with osteogenesis imperfecta: a randomised, double-blind, placebo-controlled trial. Lancet. 2013;382(9902):1424–32.PubMedCrossRef
21.
23.
Zurück zum Zitat Gatti D, et al. Teriparatide treatment in adult patients with osteogenesis imperfecta type I. Calcif Tissue Int. 2013;93(5):448–52.PubMedCrossRef Gatti D, et al. Teriparatide treatment in adult patients with osteogenesis imperfecta type I. Calcif Tissue Int. 2013;93(5):448–52.PubMedCrossRef
24.
Zurück zum Zitat Vahle JL, et al. Bone neoplasms in F344 rats given teriparatide [rhPTH(1–34)] are dependent on duration of treatment and dose. Toxicol Pathol. 2004;32(4):426–38.PubMedCrossRef Vahle JL, et al. Bone neoplasms in F344 rats given teriparatide [rhPTH(1–34)] are dependent on duration of treatment and dose. Toxicol Pathol. 2004;32(4):426–38.PubMedCrossRef
25.
Zurück zum Zitat Koerber F, et al. Introduction of a new standardized assessment score of spine morphology in osteogenesis imperfecta. Rofo. 2012;184(8):719–25.PubMedCrossRef Koerber F, et al. Introduction of a new standardized assessment score of spine morphology in osteogenesis imperfecta. Rofo. 2012;184(8):719–25.PubMedCrossRef
27.
Zurück zum Zitat Karbowski A, et al. Experience with Bailey-Dubow rodding in children with osteogenesis imperfecta. Eur J Pediatr Surg. 2000;10(2):119–24.PubMedCrossRef Karbowski A, et al. Experience with Bailey-Dubow rodding in children with osteogenesis imperfecta. Eur J Pediatr Surg. 2000;10(2):119–24.PubMedCrossRef
28.
Zurück zum Zitat Ruck J, et al. Fassier-Duval femoral rodding in children with osteogenesis imperfecta receiving bisphosphonates: functional outcomes at one year. J Child Orthop. 2011;5(3):217–24.PubMedCentralPubMedCrossRef Ruck J, et al. Fassier-Duval femoral rodding in children with osteogenesis imperfecta receiving bisphosphonates: functional outcomes at one year. J Child Orthop. 2011;5(3):217–24.PubMedCentralPubMedCrossRef
29.
Zurück zum Zitat Hoyer-Kuhn H, et al. A specialized rehabilitation approach improves mobility in children with osteogenesis imperfecta. J Musculoskelet Neuronal Interact. 2014;14(4):445–53.PubMed Hoyer-Kuhn H, et al. A specialized rehabilitation approach improves mobility in children with osteogenesis imperfecta. J Musculoskelet Neuronal Interact. 2014;14(4):445–53.PubMed
Metadaten
Titel
Osteogenesis imperfecta: pathophysiology and treatment
verfasst von
Heike Hoyer-Kuhn
Christian Netzer
Oliver Semler
Publikationsdatum
01.07.2015
Verlag
Springer Vienna
Erschienen in
Wiener Medizinische Wochenschrift / Ausgabe 13-14/2015
Print ISSN: 0043-5341
Elektronische ISSN: 1563-258X
DOI
https://doi.org/10.1007/s10354-015-0361-x

Weitere Artikel der Ausgabe 13-14/2015

Wiener Medizinische Wochenschrift 13-14/2015 Zur Ausgabe