Score zur Bewertung von Röntgenaufnahmen der Wirbelsäule bei Osteogenesis imperfecta (OI)

Koerber, Friederike; Uphoff, U. Schulze; Koerber, S; Schöenau, Eckhard; Liebig, T; Semler, Oliver

doi:10.1055/s-0032-1311244

Cited by 2 publications

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“…Spine morphometry was evaluated based on the semiquantitative score described by Koerber et al assessing vertebral compression and deformity [16]. They were evaluated by the same radiologist.…”

Section: Methodsmentioning

confidence: 99%

Two years’ experience with denosumab for children with Osteogenesis imperfecta type VI

Hoyer‐Kuhn

Netzer

Koerber

et al. 2014

Orphanet J Rare Dis

108

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BackgroundOsteogenesis imperfecta (OI) is a hereditary disease causing reduced bone mass, increased fracture rate, long bone deformities and vertebral compressions. Additional non skeletal findings are caused by impaired collagen function and include hyperlaxity of joints and blue sclera. Most OI cases are caused by dominant mutations in COL1A1/2 affecting bone formation. During the last years, recessive forms of OI have been identified, mostly affecting posttranslational modification of collagen. In 2011, mutations in SERPINF1 were identified as the molecular cause of OI type VI, and thereby a novel pathophysiology of the disease was elucidated. The subgroup of patients with OI type VI are affected by an increased bone resorption, leading to the same symptoms as observed in patients with an impaired bone formation. Severely affected children are currently treated with intravenous bisphosphonates regardless of the underlying mutation and pathophysiology. Patients with OI type VI are known to have a poor response to such a bisphosphonate treatment.MethodDeciphering the genetic cause of OI type VI in our 4 patients (three children and one adolescent) led to an immediate translational approach in the form of a treatment with the monoclonal RANKL antibody Denosumab (1 mg/kg body weight every 12 weeks).ResultsShort-term biochemical response to this treatment was reported previously. We now present the results after 2 years of treatment and demonstrate a long term benefit as well as an increase of bone mineral density, a normalization of vertebral shape, an increase of mobility, and a reduced fracture rate.ConclusionThis report presents the first two-year data of denosumab treatment in patients with Osteogenesis imperfecta type VI and in Osteogenesis imperfecta in general as an effective and apparently safe treatment option.

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Section: Methodsmentioning

confidence: 99%

Two years’ experience with denosumab for children with Osteogenesis imperfecta type VI

Hoyer‐Kuhn

Netzer

Koerber

et al. 2014

Orphanet J Rare Dis

108

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Diagnosis of osteoporotic vertebral fractures in children

Alqahtani

Offiah

2018

Pediatr Radiol

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Osteoporosis is a generalised disorder of the skeleton with reduced bone density and abnormal bone architecture. It increases bone fragility and renders the individual susceptible to fractures. Fractures of the vertebrae are common osteoporotic fractures. Vertebral fractures may result in scoliosis or kyphosis and, because they may be clinically silent, it is imperative that vertebral fractures are diagnosed in children accurately and at an early stage, so the necessary medical care can be implemented. Traditionally, diagnosis of osteoporotic vertebral fractures has been from lateral spine radiographs; however, a small number of studies have shown that dual energy x-ray absorptiometry is comparable to radiographs for identifying vertebral fractures in children, while allowing reduced radiation exposure. The diagnosis of vertebral fractures from dual energy x-ray absorptiometry is termed vertebral fracture assessment. Existing scoring systems for vertebral fracture assessment in adults have been assessed for use in children, but there is no standardisation and observer reliability is variable. This literature review suggests the need for a semiautomated tool that (compared to the subjective and semiquantitative methods available) will allow more reliable and precise detection of vertebral fractures in children.

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Score zur Bewertung von Röntgenaufnahmen der Wirbelsäule bei Osteogenesis imperfecta (OI)

Cited by 2 publications

References 0 publications

Two years’ experience with denosumab for children with Osteogenesis imperfecta type VI

Two years’ experience with denosumab for children with Osteogenesis imperfecta type VI

Diagnosis of osteoporotic vertebral fractures in children

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