engleski

Osteogenesis imperfecta - An overview of comprehensive treatment

Objective: The main features of osteogenesis imperfecta (OI) are excessive fragility and deformability of the long bones due to poor bone quality and reduced bone mass, what leads to frequent fractures and residual deformity. Fractures in patients with OI usually heal rapidly, and conservative treatment is successful. However, in displaced and unstable fractures surgical treatment is the only option. It is an aim to present my experience in surgical treatment of fractures and deformities as a consequence of OI. METHODS: There are 41 individuals with OI in Croatian OI Register. We analyzed 18 patients retrospectively (12 males, 6 females) who were surgically treated from 1979 to June 2004 due to fractures and deformities of the long bones. At the time of the first surgical procedure in our Department, the youngest patient was 23 months old, and the oldest patient was 34 years old (average: 9.6 years). In two patients birth fractures were noticed, and in four patients fractures occurred in the first three months of their lives. In 9 patients severe form of OI was observed. There were 63 operative procedures in 18 patients, with the range from one to seven procedures per patient. We performed 36 reoperations mostly due to fractures of over- grown bone on solid intramedullary nail. RESULTS: Different intramedullary rods were used on 34 occasions. We used solid intramedullary nails (Küntchner’s nail, Rush’s nail) in 14 operations, Kirschner wires in 12 operations, and expandable intramedullary rod (Sheffield) in five operations. Elastic titanium nail (Nancy) was used in three operations. Other modes of fixation i.e. plates and screws, ASIF external fixator, and Ilizarov system (one patient) were used in total 29 operative procedures. None of the patients had infection related to operative procedure. Operations were mostly performed on femur (43 operations, 68%) and tibia (13 operations, 21%). There were 7 procedures (11%) on the upper extremities. We observed delayed union in three patients who were treated with bisphosphonates, and in two patients on proximal ulna. At the last follow-up ten patients were outdoor walkers, with or without one hand aid. CONCLUSION: Using correct indication, surgical technique and appropriate fixation device, surgical treatment can be safely performed in patients with OI. Surgery, rehabilitation, and medical treatment may significantly improve mobility and function in OI patients. The rarity of the disease, leading to small numbers of operations performed in a year, and the variable surgical findings, support centralization of surgery in OI patients with complex limb fractures and/or deformities.

osteogenesis imperfecta, treatment

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