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Osteogenesis Imperfecta

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Osteogenesis Imperfecta Dr. Marvin Miller The Children s Medical Center Dayton, Ohio Osteogenesis Imperfecta -Genetic disorder of collagen -Can present with ... – PowerPoint PPT presentation

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Title: Osteogenesis Imperfecta


1
Osteogenesis Imperfecta
  • Dr. Marvin Miller
  • The Childrens Medical Center
  • Dayton, Ohio

2
Osteogenesis Imperfecta
-Genetic disorder of collagen -Can present with
fractures as a result of minimal physical forces
applied to the fractured bone(s) -Traditionally
diagnosed by collagen test on skin biopsy 15
false negative rate
3
Genetics of OI
  • OI is caused by mutations in the COL1A1 or COL1A2
    genes which encode the alpha1 and alpha 2 chains
    of type 1 collagen respectively

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CLASSIFICATION OF OI
OI TYPE 1 BONE FRAGILITY MILD/MOD SCLERAE BLUE COMMENTS COMMON
2 MOST SEVERE BLUE LETHAL
3 SEVERE WHITE SKELETAL DEFORMATIES
4 VARIABLE WHITE UNCOMMON
7
OI-TYPE 1
  • BLUE SCLERAE
  • WORMIAN BONES
  • SHORT STATURE
  • HEARING LOSS50
  • DENTINOGENESIS IMPERFECTA30
  • FREQUENCY120,000

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Dentinogenesis Imperfecta
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Wormian Bones
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Genetics of OI
Sporadic (25) Familial
(75)
OI
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Diagnosis of Osteogenesis Imperfecta
-Collagen test -DNA test -Bone density test
24
Confirmatory Testing for OI
  • Collagen Test
  • skin biopsy
  • costs 900
  • 3 weeks for results
  • 15 false negative rate
  • DNA Test
  • Blood
  • costs 1,800
  • 4-5 weeks for results

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Treatment of OI Fractures
Acute management of fractures Prevention of
fractures -Lifestyle-minimal contact
sports -Increase bone loading-exercise -Drugs-bi
sphosphonates
28
Pamidronate to Treat Severe OI
30 children, ages 3-16 years, with severe OI
treated with intravenous pamidronate Pamidronate
given q 4-6 months over 1.3 - 5 years Evidence
of improvement -DEXA increased bone
density -Decreased frequency of
fractures -Relief of chronic pain and fatigue
Glorieux et al, NEJM 339947-952, 1998
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