Cyclic bisphosphonate therapy in osteogenesis imperfecta type V
HJ Woodhead
Clinical Genetics
Institute of Endocrinology and Diabetes
Search for more papers by this authorDO Sillence
Clinical Genetics
University Discipline of Paediatrics and Child Health, The Children's Hospital at Westmead, Sydney, New South Wales, Australia
Search for more papers by this authorHJ Woodhead
Clinical Genetics
Institute of Endocrinology and Diabetes
Search for more papers by this authorDO Sillence
Clinical Genetics
University Discipline of Paediatrics and Child Health, The Children's Hospital at Westmead, Sydney, New South Wales, Australia
Search for more papers by this authorAbstract
Abstract: The clinical and radiographic features and management of a young person with recently delineated Osteogenesis Imperfecta Type V is described. A female aged 9 years presented with a history of multiple fractures since 3 years of age and bilateral dislocation of the elbows from infancy. She was commenced on a low dose frequent regimen of cyclic intravenous pamidronate, which resulted in progressive improvement in bone density, reduced fracture frequency and remission of symptoms of osteoporosis.
REFERENCES
- 1 Sillence DO, Senn AS, Danks DM. Genetic heterogeneity in osteogenesis imperfecta. J. Med. Genet. 1979; 16: 101–16.
- 2 Hall CM. International nosology and classification of constitutional disorders of bone. Am. J. Med. Genet. 2002; 113: 65–77.DOI: 10.1002/ajmg.10828
- 3 Glorieux FH, Rauch F, Plotkin H et al. Type V Osteogenesis Imperfecta: a new form of brittle bone disease. J. Bone Miner. Res. 2000; 15: 1650–8.
- 4 Jones SJ, Glorieux FH, Travers R, Boyde A. The Microscopic structure of bone in normal children and patients with Osteogenesis Imperfecta: a survey using backscattered electron imaging. Calcif. Tissue Int. 1999; 64: 8–17.DOI: 10.1007/s002239900571
- 5 Hamill PV, Drizd TA, Johnson CL, Reed RB, Roche AL. NCHS growth curves for children from birth to 18 years: United States. Vital Health Stat. 1977; 11: 1–74.
- 6 Khosla S, Kleerokoper M. Biochemical markers of bone turnover. In: MJ Favus, ed. Primer on the Metabolic Bone Diseases and Disorders of Mineral Metabolism, 4th edn. Philadelphia : Lippincott . Williams & Wilkins, 1999; 128–34.
- 7 Sillence DO. Craniocervical abnormalities in Osteogenesis Imperfecta. Genetic and molecular correlation. Pediatr. Radiol. 1994; 24: 427–30.
- 8 Verge C, Lam A, Simpson JM, Cowell CT, Howard NJ, Silink M. Effects of therapy in X-Linked Hypophosphataemic Rickets. N. Engl. J. Med. 1991; 325: 1843–8.
- 9 Lu PW, Briody J, Ogle G et al. Bone mineral density of total body, spine and femoral neck in children and young adults. Cross-sectional and longitudinal study. J. Bone Miner. Res. 1994; 9: 1451–7.
- 10
Paterson CR,
McAllion S,
Miller R.
Osteogenesis Imperfecta with dominant inheritance and normal sclerae.
J. Bone Joint Surg. Br. 1983; 65B: 35–9.
10.1302/0301-620X.65B1.6822598 Google Scholar
- 11 Smith R, Francis MJO, Houghton GR. The Brittle Bone Syndrome. Osteogenesis Imperfecta. London : Butterworths , 1983.
- 12 Boyde A, Travers R, Glorieux FH, Jones SJ. The mineralization density of iliac crest bone from children with Osteogenesis Imperfecta. Calcif. Tissue Int. 1999; 64: 185–90.
- 13
Bauze RJ,
Smith R,
Francis MJ.
A new look at osteogenesis imperfecta. A clinical, radiological and biochemical study of 42 patients.
J. Bone Joint Surg. Br. 1975; 57B: 2–12.
10.1302/0301-620X.57B1.2 Google Scholar
- 14 Kozlowski K, Bittner K. Unclassified demineralizing bone in an 8 years old girl (report of a case). Australas. Radiol. 1981; 25: 76–80.
- 15
Sillence DO,
Morley K,
Ault JE.
Clinical management of Osteogenesis Imperfecta.
Connect. Tissue Res. 1995; 31: 15–21.
10.3109/03008209509116827 Google Scholar
- 16 Langman CB. Improvement of bone in patients with osteogenesis imperfecta treated with pamidronate-lessons from biochemistry. J. Clin. Endocrinol. Metab. 2003; 88: 984–5.DOI: 10.1210/jc.2003-030106
- 17 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: 986–92.DOI: 10.1210/jc.2002-021371
- 18 Shoemaker LR. The expanding role of bisphosphonates in children. J. Pediatr. 1999; 134: 264–7.
- 19 Åström E, Söderhäll S. Beneficial effect of bisphosphonate during 5 years of treatment of severe osteogenesis imperfecta. Acta. Paediatr. 1998; 87: 64–8.DOI: 10.1080/08035259850157895
- 20 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: 947–52.DOI: 10.1056/NEJM199810013391402
- 21 Batch JJ, Couper JJ, Rodda C, Cowell CT, Zacharin M. Position Paper. Use of bisphosphonate therapy for osteoporosis in childhood and adolescence. J. Paediatr. Child Health 2003; 39: 88–92.
- 22 Marini JC. Do bisphosphonates make children's bones better or brittle N. Engl. J. Med. 2003; 349: 423–6.DOI: 10.1056/NEJMp038103
- 23 The WHO Study Group. Assessment of fracture risk and its application to screening for postmenopausal osteoporosis. World Health Organization Techn Report Series 1994; 843: 1–129.