Search

Osteogenesis imperfecta (OI) is the most frequent hereditary bone disease during childhood. In most cases OI is caused by mutations affecting collagen production. Phenotypes of patients differ substantially and there is no clear genotype-phenotype correlation. Main symptom is an increased fracture rate due to inadequate traumata. Additionally, extra-skelettale signs like muscle hypotonia and hearing impairments are frequently reported. The multimodular therapy includes surgical procedures to treat fractures and to correct deformities. During childhood drug therapy is limited to the use of bisphosphonates. Other antiresorptive drugs like Denosumab are currently under investigation. After end of growth osteoanabolic agents like Teriparatide or Antisclerostin can be used. Most important is a regular training including physiotherapy and rehabilitation. To coordinate these therapies the care of the patients need to be centralized. Such a treatment in specialized centers will allow to learn more about natural history of the disease and to improve the care.

Hereditary skeletal disorders are rare but have a huge impact on patients and require a multidisciplinary medical care. A differentiation is made between diseases affecting bone matrix production (e. g. osteogenesis imperfecta) and those with defects in mineralization. The latter are separated into those where insufficient substrate is available (e. g. rickets) and those with a diminished function of alkaline phosphatase (e. g. hypophosphatasia). The diagnostics of diseases affecting collagen formation are mainly based on the clinical findings and radiographs, in comparison to mineralization defects where laboratory findings are important. Due to the complexity and diversity of the symptoms, therapy has to be undertaken by a multidisciplinary team coordinating all forms of treatment. For pediatric patients this is mostly localized in Sozial Padiatrischen Zentren. In most cases the medical treatment is purely symptomatic and the drugs used are neither approved nor internationally standardized; therefore, the off-label treatment should be conducted in specialized centers. The needs of patients are different during transition because in cases of synthesis defects with the culmination of growth and puberty a long period with few complaints begins and consequently a lack of contact with physicians, resulting in a loss of continuity of medical care. In contrast patients with mineralization defects need continuous medical care and there is a closer association with physicians; however, there are only relatively few physicians specialized in the treatment of adults and interdisciplinary treatment is not well established. A treatment structure similar to that in Sozial Padiatrischen Zentren would be desirable and in the future could be achieved by Centers for Rare Diseases.