Paediatria Croatica, Vol. 61 No. 3, 2017.
Review article
https://doi.org/10.13112/PC.2017.14
Osteogenesis imperfecta: clinical assessment and medical treatment
Ingeborg Barišić
orcid.org/0000-0002-9085-6747
; Klinika za dječje bolesti Zagreb
Mirjana Turkalj
Dragan Primorac
Abstract
Osteogenesis imperfecta (OI) is a phenotypically and molecularly heterogeneous group of heritable connective tissue disorders
characterized by low bone mineral density, recurrent fractures, and bone deformities. Most cases of OI are inherited in an autosomal
dominant manner and are caused by mutations in the COL1A1 and COL1A2 genes, leading to quantitative or qualitative defects in
type 1 collagen. More recently, a number of other genes responsible for both recessive and dominant forms of this condition have
been identifi ed. In this brief review, we discuss current understanding of clinical assessment, follow-up and pharmacological
therapies for the treatment of OI. The multidisciplinary surveillance in patients with OI includes periodical hearing and vision testing,
dental examination, spirometry or body plethysmography, evaluation of heart/valvular function, and neurological and psychological
assessment. There is a need for regular assessment of bone mineral density (BMD) to evaluate treatment success and disease
progression, and skeletal radiographs at the time of diagnosis and later as indicated by orthopaedists. Treatment of OI is aimed at
preventing or controlling the symptoms present in individual patient with the main goals to decrease fracture rate, relieve bone pain,
and provide suffi cient bone mass and good muscle strength promoting self-mobility and growth. This requires a multi-disciplinary
approach, utilizing medical treatment, physical therapy, orthopedic surgery, and nutrition monitoring. Intravenous bisphosphonate
therapy is the most widely used medical treatment. It has an evident eff ect on BMD of lumbar spine, femoral neck and total hip in
growing children and can lead to vertebral reshaping after compression fractures, but no signifi cant eff ect on the risk of fractures has
been observed in adults. Other novel promising therapies include teriparatide, combination therapy with antiresorptive and anabolic
drugs, denosumab, transforming growth factor beta, sclerostin and cathepsin K inhibitors, and cell-based therapy, such as bone
marrow or mesenchymal stem cell transplantation. Gene targeting approaches are still at early stages of investigation.
Keywords
children; fractures; osteogenesis imperfecta; bone mineral density; bisphosphonates; denosumab; teriparatide; mesenchymal stem cell; transforming growth factor beta; sclerostin antibody; growth hormone
Hrčak ID:
201163
URI
Publication date:
25.9.2017.
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