[Osteogenesis imperfecta as an interdisciplinary medical problem].
In years 2001-2003 six children (3 boys ond 3 girls) from 2.1 to 18.7 years old with osteogenesis imperfecta (OI) were treated in our clinic. Besides clinical and radiological evaluation, densitometry and biochemical analysis of collagen were performed. Biochemical analysis was performed on cultured in vitro fibroblasts from the skin biopsies. Based on this findings 1 child was graded as type I of OI, 4 children as type III and 1 as type IV. Recognition of collagen defect helps with diagnosis and makes the decision for pharmacological treatment easier. In 1 child with the dramatic type III OI therapy with pamidronian was implemented with good result. Performed surgical treatment, intramedullar stabilisation with Rush rod, proved to be useful choice in correcting axial deformations of the lower extremities and preventing from the future fractures.
Popko
Janusz
J
Klinika Ortopedii i Traumatologii Dzieciecej, Akademia Medyczna w Białymstoku.
Galicka
Anna
A
Wołczyński
Sławomir
S
Zalewski
Wojciech
W
Konstantynowicz
Jerzy
J
D015502:Absorptiometry, Photon; D000293:Adolescent; D000893:Anti-Inflammatory Agents / Q000627:therapeutic use; D002648:Child; D002675:Child, Preschool; D003094:Collagen / Q000096:biosynthesis / Q000302:isolation & purification / Q000378:metabolism*; D004164:Diphosphonates / Q000627:therapeutic use; D005260:Female; D005347:Fibroblasts / Q000378:metabolism; D050723:Fractures, Bone / Q000209:etiology / Q000517:prevention & control; D006801:Humans; D007103:Immobilization; D066298:In Vitro Techniques; D007223:Infant; D008297:Male; D010013:Osteogenesis Imperfecta / Q000000981:diagnostic imaging / Q000378:metabolism* / Q000628:therapy*; D000077268:Pamidronate; D011347:Procollagen / Q000302:isolation & purification / Q000378:metabolism; D012189:Retrospective Studies; D013997:Time Factors
D000893:Anti-Inflammatory Agents; D004164:Diphosphonates; D011347:Procollagen; D003094:Collagen; D000077268:Pamidronate