Skip to main content
Erschienen in: Monatsschrift Kinderheilkunde 4/2017

16.11.2016 | Bisphosphonate | Konsensuspapiere

Diagnostik und Therapie der Osteogenesis imperfecta

Konsensus-Statement der 30. Jahrestagung 2014 der Deutschen Gesellschaft für Osteogenesis imperfecta Betroffene e.V.

verfasst von: H. Hoyer-Kuhn, J. Bartz-Seel, R. Blickheuser, U. v. Deimling, R. Stücker, T. Wirth, J. Wolf, K. H. Wollinsky, PD Dr. O. Semler

Erschienen in: Monatsschrift Kinderheilkunde | Ausgabe 4/2017

Einloggen, um Zugang zu erhalten

Zusammenfassung

Anlässlich des 30-jährigen Jubiläums wurde vom Bundesverband der „Deutschen Gesellschaft für Osteogenesis imperfecta Betroffene e.V.“ (DOIG) im Juni 2014 ein Experten-Panel einberufen. Im Rahmen einer Zusammenstellung persönlicher Erfahrungen und der Ergebnisse einer Literaturrecherche formulierten die teilnehmenden Pädiater, Anästhesisten, Orthopäden, Allgemeinmediziner und Pulmologen Statements zur medizinischen Betreuung von Patienten mit Osteogenesis imperfecta (OI) im Alter von 0 bis 18 Jahren. Diese werden im vorliegenden Beitrag zusammengefasst.
Literatur
6.
Zurück zum Zitat van Dijk FS, Byers PH, Dalgleish R et al (2012) EMQN best practice guidelines for the laboratory diagnosis of osteogenesis imperfecta. Eur J Hum Genet 20:11–19CrossRefPubMed van Dijk FS, Byers PH, Dalgleish R et al (2012) EMQN best practice guidelines for the laboratory diagnosis of osteogenesis imperfecta. Eur J Hum Genet 20:11–19CrossRefPubMed
7.
Zurück zum Zitat Rauch F, Lalic L, Roughley P, Glorieux FH (2010) Genotype-phenotype correlations in nonlethal osteogenesis imperfecta caused by mutations in the helical domain of collagen type I. Eur J Hum Genet 18:642–647CrossRefPubMedPubMedCentral Rauch F, Lalic L, Roughley P, Glorieux FH (2010) Genotype-phenotype correlations in nonlethal osteogenesis imperfecta caused by mutations in the helical domain of collagen type I. Eur J Hum Genet 18:642–647CrossRefPubMedPubMedCentral
8.
Zurück zum Zitat Semler O, Hoyer-Kuhn H, Netzer C (2012) Osteogenesis imperfecta. Med Genet 4:297–309 Semler O, Hoyer-Kuhn H, Netzer C (2012) Osteogenesis imperfecta. Med Genet 4:297–309
9.
Zurück zum Zitat Glorieux FH, Bishop NJ, Plotkin H, Chabot G, Lanoue G, Travers R (1998) Cyclic administration of pamidronate in children with severe osteogenesis imperfecta. N Engl J Med 339:947–952CrossRefPubMed Glorieux FH, Bishop NJ, Plotkin H, Chabot G, Lanoue G, Travers R (1998) Cyclic administration of pamidronate in children with severe osteogenesis imperfecta. N Engl J Med 339:947–952CrossRefPubMed
10.
Zurück zum Zitat Gatti D, Antoniazzi F, Prizzi R et al (2005) Intravenous neridronate in children with osteogenesis imperfecta: A randomized controlled study. J Bone Miner Res 20:758–763CrossRefPubMed Gatti D, Antoniazzi F, Prizzi R et al (2005) Intravenous neridronate in children with osteogenesis imperfecta: A randomized controlled study. J Bone Miner Res 20:758–763CrossRefPubMed
11.
Zurück zum Zitat Antoniazzi F, Zamboni G, Lauriola S, Donadi L, Adami S, Tato L (2006) Early bisphosphonate treatment in infants with severe osteogenesis imperfecta. J Pediatr 149:174–179CrossRefPubMed Antoniazzi F, Zamboni G, Lauriola S, Donadi L, Adami S, Tato L (2006) Early bisphosphonate treatment in infants with severe osteogenesis imperfecta. J Pediatr 149:174–179CrossRefPubMed
12.
Zurück zum Zitat Land C, Rauch F, Montpetit K, Ruck-Gibis J, Glorieux FH (2006) Effect of intravenous pamidronate therapy on functional abilities and level of ambulation in children with osteogenesis imperfecta. J Pediatr 148:456–460CrossRefPubMed Land C, Rauch F, Montpetit K, Ruck-Gibis J, Glorieux FH (2006) Effect of intravenous pamidronate therapy on functional abilities and level of ambulation in children with osteogenesis imperfecta. J Pediatr 148:456–460CrossRefPubMed
13.
Zurück zum Zitat Dwan K, Phillipi CA, Steiner RD, Basel D (2014) Bisphosphonate therapy for osteogenesis imperfecta. Cochrane Database Syst Rev 7:CD005088 Dwan K, Phillipi CA, Steiner RD, Basel D (2014) Bisphosphonate therapy for osteogenesis imperfecta. Cochrane Database Syst Rev 7:CD005088
14.
Zurück zum Zitat Bishop N, Adami S, Ahmed SF et al (2013) Risedronate in children with osteogenesis imperfecta: a randomised, double-blind, placebo-controlled trial. Lancet 382:1424–1432CrossRefPubMed Bishop N, Adami S, Ahmed SF et al (2013) Risedronate in children with osteogenesis imperfecta: a randomised, double-blind, placebo-controlled trial. Lancet 382:1424–1432CrossRefPubMed
15.
Zurück zum Zitat Ward LM, Rauch F, Whyte MP et al (2011) Alendronate for the treatment of pediatric osteogenesis imperfecta: a randomized placebo-controlled study. J Clin Endocrinol Metab 96:355–364CrossRefPubMed Ward LM, Rauch F, Whyte MP et al (2011) Alendronate for the treatment of pediatric osteogenesis imperfecta: a randomized placebo-controlled study. J Clin Endocrinol Metab 96:355–364CrossRefPubMed
16.
Zurück zum Zitat Rauch F, Munns C, Land C, Glorieux FH (2006) Pamidronate in children and adolescents with osteogenesis imperfecta: effect of treatment discontinuation. J Clin Endocrinol Metab 91:1268–1274CrossRefPubMed Rauch F, Munns C, Land C, Glorieux FH (2006) Pamidronate in children and adolescents with osteogenesis imperfecta: effect of treatment discontinuation. J Clin Endocrinol Metab 91:1268–1274CrossRefPubMed
17.
Zurück zum Zitat Hoyer-Kuhn H, Franklin J, Allo G et al (2016) Safety and efficacy of denosumab in children with osteogenesis imperfecta – a first prospective trial. J Musculoskelet Neuronal Interact 16:24–32PubMedPubMedCentral Hoyer-Kuhn H, Franklin J, Allo G et al (2016) Safety and efficacy of denosumab in children with osteogenesis imperfecta – a first prospective trial. J Musculoskelet Neuronal Interact 16:24–32PubMedPubMedCentral
18.
Zurück zum Zitat Gatti D, Rossini M, Viapiana O et al (2013) Teriparatide treatment in adult patients with osteogenesis imperfecta type I. Calcif Tissue Int 93:448–452CrossRefPubMed Gatti D, Rossini M, Viapiana O et al (2013) Teriparatide treatment in adult patients with osteogenesis imperfecta type I. Calcif Tissue Int 93:448–452CrossRefPubMed
20.
Zurück zum Zitat Zeitlin L, Fassier F, Glorieux FH (2003) Modern approach to children with osteogenesis imperfecta. J Pediatr Orthop B 12:77–87PubMed Zeitlin L, Fassier F, Glorieux FH (2003) Modern approach to children with osteogenesis imperfecta. J Pediatr Orthop B 12:77–87PubMed
21.
Zurück zum Zitat Birke O, Davies N, Latimer M, Little DG, Bellemore M (2011) Experience with the Fassier-Duval telescopic rod: first 24 consecutive cases with a minimum of 1‑year follow-up. J Pediatr Orthop 31:458–464CrossRefPubMed Birke O, Davies N, Latimer M, Little DG, Bellemore M (2011) Experience with the Fassier-Duval telescopic rod: first 24 consecutive cases with a minimum of 1‑year follow-up. J Pediatr Orthop 31:458–464CrossRefPubMed
22.
Zurück zum Zitat Karbowski A, Schwitalle M, Eckardt A (1999) Scoliosis in patients with osteogenesis imperfecta: a federal nation-wide cross-sectional study. Z Orthop Ihre Grenzgeb 137:219–222CrossRefPubMed Karbowski A, Schwitalle M, Eckardt A (1999) Scoliosis in patients with osteogenesis imperfecta: a federal nation-wide cross-sectional study. Z Orthop Ihre Grenzgeb 137:219–222CrossRefPubMed
23.
Zurück zum Zitat Anissipour AK, Hammerberg KW, Caudill A et al (2014) Behavior of scoliosis during growth in children with osteogenesis imperfecta. J Bone Joint Surg Am 96(3):237–243CrossRefPubMed Anissipour AK, Hammerberg KW, Caudill A et al (2014) Behavior of scoliosis during growth in children with osteogenesis imperfecta. J Bone Joint Surg Am 96(3):237–243CrossRefPubMed
24.
Zurück zum Zitat Engelbert RH, Uiterwaal CS, van der Hulst A, Witjes B, Helders PJ, Pruijs HE (2003) Scoliosis in children with osteogenesis imperfecta: influence of severity of disease and age of reaching motor milestones. Eur Spine J 12:130–134PubMed Engelbert RH, Uiterwaal CS, van der Hulst A, Witjes B, Helders PJ, Pruijs HE (2003) Scoliosis in children with osteogenesis imperfecta: influence of severity of disease and age of reaching motor milestones. Eur Spine J 12:130–134PubMed
25.
Zurück zum Zitat Wekre LL, Kjensli A, Aasand K, Falch JA, Eriksen EF (2013) Spinal deformities and lung function in adults with osteogenesis imperfecta. Clin Respir J 8(4):437. doi:10.1111/crj.12092 CrossRef Wekre LL, Kjensli A, Aasand K, Falch JA, Eriksen EF (2013) Spinal deformities and lung function in adults with osteogenesis imperfecta. Clin Respir J 8(4):437. doi:10.​1111/​crj.​12092 CrossRef
26.
Zurück zum Zitat Widmann RF, Bitan FD, Laplaza FJ, Burke SW, DiMaio MF, Schneider R (1999) Spinal deformity, pulmonary compromise, and quality of life in osteogenesis imperfecta. Spine 16(24):1673–1678CrossRef Widmann RF, Bitan FD, Laplaza FJ, Burke SW, DiMaio MF, Schneider R (1999) Spinal deformity, pulmonary compromise, and quality of life in osteogenesis imperfecta. Spine 16(24):1673–1678CrossRef
27.
Zurück zum Zitat Hatz D, Esposito PW, Schroeder B, Burke B, Lutz R, Hasley BP (2011) The incidence of spondylolysis and spondylolisthesis in children with osteogenesis imperfecta. J Pediatr Orthop 31:655–660CrossRefPubMed Hatz D, Esposito PW, Schroeder B, Burke B, Lutz R, Hasley BP (2011) The incidence of spondylolysis and spondylolisthesis in children with osteogenesis imperfecta. J Pediatr Orthop 31:655–660CrossRefPubMed
28.
Zurück zum Zitat Yong-Hing K, MacEwen GD (1982) Scoliosis associated with osteogenesis imperfecta. J Bone Joint Surg Br 64:36–43PubMed Yong-Hing K, MacEwen GD (1982) Scoliosis associated with osteogenesis imperfecta. J Bone Joint Surg Br 64:36–43PubMed
29.
Zurück zum Zitat Kaplan L, Barzilay Y, Hashroni A, Itshayek E, Schroeder JE (2012) Thoracic elongation in type 3 osteogenesis imperfecta patients with thoracic insufficiency syndrome. Spine. doi:10.1097/brs.0b013e31827a7566 Kaplan L, Barzilay Y, Hashroni A, Itshayek E, Schroeder JE (2012) Thoracic elongation in type 3 osteogenesis imperfecta patients with thoracic insufficiency syndrome. Spine. doi:10.​1097/​brs.​0b013e31827a7566​
30.
Zurück zum Zitat Yilmaz G, Hwang S, Oto M et al (2014) Surgical treatment of scoliosis in osteogenesis imperfecta with cement-augmented pedicle screw instrumentation. J Spinal Disord Tech 27:174–180CrossRefPubMed Yilmaz G, Hwang S, Oto M et al (2014) Surgical treatment of scoliosis in osteogenesis imperfecta with cement-augmented pedicle screw instrumentation. J Spinal Disord Tech 27:174–180CrossRefPubMed
31.
Zurück zum Zitat Tolboom N, Cats EA, Helders PJ, Pruijs JE, Engelbert RH (2004) Osteogenesis imperfecta in childhood: effects of spondylodesis on functional ability, ambulation and perceived competence. Eur Spine J 13:108–113CrossRefPubMed Tolboom N, Cats EA, Helders PJ, Pruijs JE, Engelbert RH (2004) Osteogenesis imperfecta in childhood: effects of spondylodesis on functional ability, ambulation and perceived competence. Eur Spine J 13:108–113CrossRefPubMed
32.
Zurück zum Zitat Takken T, Terlingen HC, Helders PJ, Pruijs H, Van der Ent CK, Engelbert RH (2004) Cardiopulmonary fitness and muscle strength in patients with osteogenesis imperfecta type I. J Pediatr 145:813–818CrossRefPubMed Takken T, Terlingen HC, Helders PJ, Pruijs H, Van der Ent CK, Engelbert RH (2004) Cardiopulmonary fitness and muscle strength in patients with osteogenesis imperfecta type I. J Pediatr 145:813–818CrossRefPubMed
33.
Zurück zum Zitat Wang TG, Yang GF, Alba A (1994) Chronic ventilator use in osteogenesis imperfecta congenita with basilar impression: a case report. Arch Phys Med Rehabil 75:699–702CrossRefPubMed Wang TG, Yang GF, Alba A (1994) Chronic ventilator use in osteogenesis imperfecta congenita with basilar impression: a case report. Arch Phys Med Rehabil 75:699–702CrossRefPubMed
34.
Zurück zum Zitat LoMauro A, Pochintesta S, Romei M et al (2012) Rib cage deformities alter respiratory muscle action and chest wall function in patients with severe osteogenesis imperfecta. PLOS ONE 7:e35965CrossRefPubMedPubMedCentral LoMauro A, Pochintesta S, Romei M et al (2012) Rib cage deformities alter respiratory muscle action and chest wall function in patients with severe osteogenesis imperfecta. PLOS ONE 7:e35965CrossRefPubMedPubMedCentral
35.
Zurück zum Zitat Windisch W, Walterspacher S, Siemon K, Geiseler J, Sitter H, Deutsche Gesellschaft für Pneumologie und Beatmungsmedizin (2010) S2-Leitlinie nichtinvasive und invasive Beatmung als Therapie der Chronischen respiratorischen Insuffizienz. Thieme, Stuttgart, New-York Windisch W, Walterspacher S, Siemon K, Geiseler J, Sitter H, Deutsche Gesellschaft für Pneumologie und Beatmungsmedizin (2010) S2-Leitlinie nichtinvasive und invasive Beatmung als Therapie der Chronischen respiratorischen Insuffizienz. Thieme, Stuttgart, New-York
36.
Zurück zum Zitat Wollinsky KH (2014) Langzeitbeatmung bei Osteogenesis imperfecta. Jahreskongress der Deutschen Interdisziplinären Gesellschaft für Außerklinische Beatmung Wollinsky KH (2014) Langzeitbeatmung bei Osteogenesis imperfecta. Jahreskongress der Deutschen Interdisziplinären Gesellschaft für Außerklinische Beatmung
37.
Zurück zum Zitat Arcaro G, Braccioni F, Gallan F, Marchi MR, Vianello A (2012) Noninvasive positive pressure ventilation in the management of acute respiratory failure due to osteogenesis imperfecta. J Clin Anesth 24:55–57CrossRefPubMed Arcaro G, Braccioni F, Gallan F, Marchi MR, Vianello A (2012) Noninvasive positive pressure ventilation in the management of acute respiratory failure due to osteogenesis imperfecta. J Clin Anesth 24:55–57CrossRefPubMed
38.
Zurück zum Zitat Vega-Briceno L, Contreras I, Sanchez I, Bertrand P (2004) Early use of BiPAP in the management of respiratory failure in an infant with osteogenesis imperfecta: case report. Rev Med Chil 132:861–864CrossRefPubMed Vega-Briceno L, Contreras I, Sanchez I, Bertrand P (2004) Early use of BiPAP in the management of respiratory failure in an infant with osteogenesis imperfecta: case report. Rev Med Chil 132:861–864CrossRefPubMed
39.
Zurück zum Zitat Wollinsky KH, Geiger PM, Nelitz M, Brenner RE (2008) Noninvasive ventilation for respiratory insufficiency. 10th International Conference on Osteogenesis Imperfecta. (Abstractband, Oral presentation 10th International Conference on Osteogenesis imperfecta) Wollinsky KH, Geiger PM, Nelitz M, Brenner RE (2008) Noninvasive ventilation for respiratory insufficiency. 10th International Conference on Osteogenesis Imperfecta. (Abstractband, Oral presentation 10th International Conference on Osteogenesis imperfecta)
40.
Zurück zum Zitat Oakley I, Reece LP (2010) Anesthetic implications for the patient with osteogenesis imperfecta. AANA J 78:47–53PubMed Oakley I, Reece LP (2010) Anesthetic implications for the patient with osteogenesis imperfecta. AANA J 78:47–53PubMed
41.
Zurück zum Zitat Biro P, Vagts DA, Emmig U, Pasch T (2011) Anästhesie bei seltenen Erkrankungen. Springer, Heidelberg, Berlin, New York, S 196–197CrossRef Biro P, Vagts DA, Emmig U, Pasch T (2011) Anästhesie bei seltenen Erkrankungen. Springer, Heidelberg, Berlin, New York, S 196–197CrossRef
42.
Zurück zum Zitat Heinrich S, Tzabazis A (2012) Anesthesia recommendations for patients suffering from Osteogenesis imperfecta. OrphanAnesthesia – Guidelines for anesthesia in patients with rare diseases A project of the German Society of Anesthesia and Intensive Care Medicine. www.orphanAnesthesia.eu. Zugegriffen: 17.Oktober 2016 Heinrich S, Tzabazis A (2012) Anesthesia recommendations for patients suffering from Osteogenesis imperfecta. OrphanAnesthesia – Guidelines for anesthesia in patients with rare diseases A project of the German Society of Anesthesia and Intensive Care Medicine. www.​orphanAnesthesia​.​eu. Zugegriffen: 17.Oktober 2016
43.
Zurück zum Zitat Burnett YL, Brennan MP, Klowden AJ, Smith PA (1994) Effect of Automatic Tourniquets and Automatic Noninvasive Blood Pressure Devices on Inducing Fractures in Pediatric Patients with Osteogenesis Imperfecta. ANESTHESIOLOGY – PHILADELPHIA THEN HAGERSTOWN – Annual meeting., S A507 Burnett YL, Brennan MP, Klowden AJ, Smith PA (1994) Effect of Automatic Tourniquets and Automatic Noninvasive Blood Pressure Devices on Inducing Fractures in Pediatric Patients with Osteogenesis Imperfecta. ANESTHESIOLOGY – PHILADELPHIA THEN HAGERSTOWN – Annual meeting., S A507
44.
Zurück zum Zitat Porsborg P, Astrup G, Bendixen D, Lund AM, Ording H (1996) Osteogenesis imperfecta and malignant hyperthermia. Is there a relationship? Anaesthesia 51:863–865CrossRefPubMed Porsborg P, Astrup G, Bendixen D, Lund AM, Ording H (1996) Osteogenesis imperfecta and malignant hyperthermia. Is there a relationship? Anaesthesia 51:863–865CrossRefPubMed
45.
Zurück zum Zitat Rudlof B, Scheel G, Jacquet M (2006) Anesthesia for cesarean section in a patient with Lobstein’s syndrome. Anaesthesist 55:655–659CrossRefPubMed Rudlof B, Scheel G, Jacquet M (2006) Anesthesia for cesarean section in a patient with Lobstein’s syndrome. Anaesthesist 55:655–659CrossRefPubMed
46.
Zurück zum Zitat Semler O, Fricke O, Vezyroglou K, Stark C, Stabrey A, Schoenau E (2008) Results of a prospective pilot trial on mobility after whole body vibration in children and adolescents with osteogenesis imperfecta. Clin Rehabil 22:387–394CrossRefPubMed Semler O, Fricke O, Vezyroglou K, Stark C, Stabrey A, Schoenau E (2008) Results of a prospective pilot trial on mobility after whole body vibration in children and adolescents with osteogenesis imperfecta. Clin Rehabil 22:387–394CrossRefPubMed
47.
Zurück zum Zitat Hoyer-Kuhn H, Semler O, Stark C, Struebing N, Goebel O, Schoenau E (2014) A specialized rehabilitation approach improves mobility in children with osteogenesis imperfecta. J Musculoskelet Neuronal Interact 14:445–453PubMed Hoyer-Kuhn H, Semler O, Stark C, Struebing N, Goebel O, Schoenau E (2014) A specialized rehabilitation approach improves mobility in children with osteogenesis imperfecta. J Musculoskelet Neuronal Interact 14:445–453PubMed
48.
Zurück zum Zitat Glorieux et al (1998) Cyclic administration of pamidronate in children with severe osteogenesis imperfecta. N Engl J Med 339(14):947–952 Glorieux et al (1998) Cyclic administration of pamidronate in children with severe osteogenesis imperfecta. N Engl J Med 339(14):947–952
49.
Zurück zum Zitat Antoniazzi et al (2006) Early bisphosphonate treatment in infants with severe osteogenesis imperfecta. J Pediatr 149(2):174–179 Antoniazzi et al (2006) Early bisphosphonate treatment in infants with severe osteogenesis imperfecta. J Pediatr 149(2):174–179
Metadaten
Titel
Diagnostik und Therapie der Osteogenesis imperfecta
Konsensus-Statement der 30. Jahrestagung 2014 der Deutschen Gesellschaft für Osteogenesis imperfecta Betroffene e.V.
verfasst von
H. Hoyer-Kuhn
J. Bartz-Seel
R. Blickheuser
U. v. Deimling
R. Stücker
T. Wirth
J. Wolf
K. H. Wollinsky
PD Dr. O. Semler
Publikationsdatum
16.11.2016
Verlag
Springer Medizin
Erschienen in
Monatsschrift Kinderheilkunde / Ausgabe 4/2017
Print ISSN: 0026-9298
Elektronische ISSN: 1433-0474
DOI
https://doi.org/10.1007/s00112-016-0189-5

Weitere Artikel der Ausgabe 4/2017

Monatsschrift Kinderheilkunde 4/2017 Zur Ausgabe

Pädiatrie aktuell

Pädiatrie aktuell

Mitteilungen der ÖGKJ

Mitteilungen der ÖGKJ

Update Pädiatrie

Bestellen Sie unseren Fach-Newsletter und bleiben Sie gut informiert.