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Osteogenesis Imperfecta (OI) — QSP Model References

40편의 PubMed 문헌을 역학/유전/분류, 분자병태생리(콜라겐 생합성/열성 OI 유전자), Wnt·스클레로스틴/RANKL-OPG, TGF-베타 경로, 비스포스포네이트 치료, 데노수맙, 테리파라타이드, 세트루수맙/프레솔리무맙(투자적), 골외증상·임상결과/지침의 9개 섹션으로 분류. 모든 PMID는 PubMed에서 직접 검증됨.

1. 역학·유전·분류 (Epidemiology, Genetics, Classification)

  1. Sillence DO, Senn A, Danks DM. Genetic heterogeneity in osteogenesis imperfecta. J Med Genet. 1979;16(2):101-116. PMID: 458828
  2. Marini JC, Forlino A, Bächinger HP, et al. Osteogenesis imperfecta. Nat Rev Dis Primers. 2017;3:17052. PMID: 28820180
  3. Forlino A, Marini JC. Osteogenesis imperfecta. Lancet. 2016;387(10028):1657-1671. PMID: 26542481
  4. Van Dijk FS, Sillence DO. Osteogenesis imperfecta: clinical diagnosis, nomenclature and severity assessment. Am J Med Genet A. 2014;164A(6):1470-1481. PMID: 24715559
  5. Byers PH, Pyott SM. Recessively inherited forms of osteogenesis imperfecta. Annu Rev Genet. 2012;46:475-497. PMID: 23145505
  6. Rauch F, Glorieux FH. Osteogenesis imperfecta. Lancet. 2004;363(9418):1377-1385. PMID: 15110498

2. 분자병태생리 — 콜라겐 생합성 · 열성 OI 유전자 (Collagen Biosynthesis & Recessive Genes)

  1. Barnes AM, Chang W, Morello R, et al. Deficiency of cartilage-associated protein in recessive lethal osteogenesis imperfecta. N Engl J Med. 2006;355(26):2757-2764. PMID: 17192541
  2. Cabral WA, Chang W, Barnes AM, et al. Prolyl 3-hydroxylase 1 deficiency causes a recessive metabolic bone disorder resembling lethal/severe osteogenesis imperfecta. Nat Genet. 2007;39(3):359-365. PMID: 17277775
  3. Christiansen HE, Schwarze U, Pyott SM, 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):389-398. PMID: 20188343
  4. Van Dijk FS, Nesbitt IM, Zwikstra EH, et al. PPIB mutations cause severe osteogenesis imperfecta. Am J Hum Genet. 2009;85(4):521-527. PMID: 19781681
  5. Alanay Y, Avaygan H, Camacho N, et al. Mutations in the gene encoding the RER protein FKBP65 cause autosomal-recessive osteogenesis imperfecta. Am J Hum Genet. 2010;86(4):551-559. PMID: 20362275
  6. Lapunzina P, Aglan M, Temtamy S, et al. Identification of a frameshift mutation in Osterix in a patient with recessive osteogenesis imperfecta. Am J Hum Genet. 2010;87(1):110-114. PMID: 20579626
  7. Forlino A, Cabral WA, Barnes AM, Marini JC. New perspectives on osteogenesis imperfecta. Nat Rev Endocrinol. 2011;7(9):540-557. PMID: 21670757

3. Wnt/스클레로스틴 및 RANKL-OPG 골재형성 커플링

  1. Keupp K, Beleggia F, Kayserili H, et al. Mutations in WNT1 cause different forms of bone fragility. Am J Hum Genet. 2013;92(4):565-574. PMID: 23499309
  2. 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):345-348. PMID: 23434763
  3. Kocijan R, Muschitz C, Fahrleitner-Pammer A, et al. Serum sclerostin levels are decreased in adult patients with different types of osteogenesis imperfecta. J Clin Endocrinol Metab. 2014;99(2):E311-E319. PMID: 24203063
  4. Brunetti G, Papadia F, Tummolo A, et al. Impaired bone remodeling in children with osteogenesis imperfecta treated and untreated with bisphosphonates: the role of DKK1, RANKL, and TNF-α. Osteoporos Int. 2016;27(7):2355-2365. PMID: 26856585
  5. Grafe I, Alexander S, Yang T, et al. Sclerostin antibody treatment improves the bone phenotype of Crtap(-/-) mice, a model of recessive osteogenesis imperfecta. J Bone Miner Res. 2016;31(5):1030-1040. PMID: 26716893

4. TGF-베타 신호 경로 (TGF-beta Pathway)

  1. Grafe I, Yang T, Alexander S, et al. Excessive transforming growth factor-β signaling is a common mechanism in osteogenesis imperfecta. Nat Med. 2014;20(6):670-675. PMID: 24793237
  2. Song IW, Nagamani SCS, Nguyen D, et al. Targeting TGF-β for treatment of osteogenesis imperfecta. J Clin Invest. 2022;132(7):e152571. PMID: 35113812

5. 비스포스포네이트 치료 (Bisphosphonate Therapy)

  1. 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):947-952. PMID: 9753709
  2. Bishop N, Adami S, Ahmed SF, et al. Risedronate in children with osteogenesis imperfecta: a randomised, double-blind, placebo-controlled trial (PLUTO). Lancet. 2013;382(9902):1424-1432. PMID: 23927913
  3. Dwan K, Phillipi CA, Steiner RD, Basel D. Bisphosphonate therapy for osteogenesis imperfecta. Cochrane Database Syst Rev. 2016;10(10):CD005088. PMID: 27760454
  4. 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):485-491. PMID: 22876543
  5. Ward LM, Rauch F, Whyte MP, et al. Alendronate for the treatment of pediatric osteogenesis imperfecta: a randomized placebo-controlled study. J Clin Endocrinol Metab. 2011;96(2):355-364. PMID: 21106710
  6. 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. PMID: 15883638
  7. 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(9419):1427-1431. PMID: 15121405

6. 데노수맙 (Denosumab, Anti-RANKL)

  1. Hoyer-Kuhn H, Netzer C, Koerber F, Schoenau E, Semler O. Two years' experience with denosumab for children with osteogenesis imperfecta type VI. Orphanet J Rare Dis. 2014;9:145. PMID: 25257953
  2. 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 Neuronal Interact. 2012;12(3):183-188. PMID: 22947550

7. 테리파라타이드/PTH 유사체 (Teriparatide, Adult Type I)

  1. Orwoll ES, Shapiro J, Veith S, et al. Evaluation of teriparatide treatment in adults with osteogenesis imperfecta. J Clin Invest. 2014;124(2):491-498. PMID: 24463451
  2. Gatti D, Rossini M, Viapiana O, et al. Teriparatide treatment in adult patients with osteogenesis imperfecta type I. Calcif Tissue Int. 2013;93(5):448-452. PMID: 23907723

8. 세트루수맙(항-스클레로스틴)·프레솔리무맙(항-TGF-β) — 투자적 치료

  1. Glorieux FH, Devogelaer JP, Durigova M, et al. BPS804 anti-sclerostin antibody in adults with moderate osteogenesis imperfecta: results of a randomized phase 2a trial. J Bone Miner Res. 2017;32(7):1496-1504. PMID: 28370407
  2. Glorieux FH, Langdahl B, Chapurlat R, et al. Setrusumab for the treatment of osteogenesis imperfecta: 12-month results from the phase 2b ASTEROID study. J Bone Miner Res. 2024;39(9):1215-1228. PMID: 39012717
  3. Rummler M, et al. Bone matrix properties in adults with osteogenesis imperfecta are not adversely affected by setrusumab. J Bone Miner Res. 2024;39(9):1229-1239. PMID: 38982734
  4. Liu W, Nicol L, Orwoll E. Current and developing pharmacologic agents for improving skeletal health in adults with osteogenesis imperfecta. Calcif Tissue Int. 2024;115(6):805-811. PMID: 38472351

9. 골외 증상·임상결과·진료지침 (Extraskeletal Manifestations, Outcomes, Guidelines)

  1. Malmgren B, Norgren S. Dental aberrations in children and adolescents with osteogenesis imperfecta. Acta Odontol Scand. 2002;60(2):65-71. PMID: 12020117
  2. Ashournia H, Johansen FT, Folkestad L, Diederichsen ACP, Brixen K. Heart disease in patients with osteogenesis imperfecta - a systematic review. Int J Cardiol. 2015;196:149-157. PMID: 26100571
  3. Kuurila K, Kaitila I, Johansson R, Grénman R. Hearing loss in Finnish adults with osteogenesis imperfecta: a nationwide survey. Ann Otol Rhinol Laryngol. 2002;111(10):939-946. PMID: 12389865
  4. Dogba MJ, Bedos C, Durigova M, et al. The impact of severe osteogenesis imperfecta on the lives of young patients and their parents - a qualitative analysis. BMC Pediatr. 2013;13:153. PMID: 24074180
  5. Marom R, Rabenhorst BM, Morello R. Osteogenesis imperfecta: an update on clinical features and therapies. Eur J Endocrinol. 2020;183(4):R95-R106. PMID: 32621590