Juvenile primary osteoporosis
Dernière mise à jour 18 Aug 2020
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Juvenile primary osteoporosis is a skeletal disorder characterised by thinning of the bones (osteoporosis) that begins in childhood. Osteoporosis is caused by a shortage of calcium and other minerals in bones (decreased bone mineral density), which makes the bones brittle and prone to fracture. Affected individuals often have multiple fractures in the long bones of the arms and legs, especially in the regions where new bone forms (metaphyses). They also have fractures in the bones that form the spine (vertebrae), which can cause collapse of the affected vertebrae (compressed vertebrae). Multiple fractures can cause bone pain and lead to movement problems.
Description
Juvenile primary osteoporosis is a skeletal disorder characterised by thinning of the bones (osteoporosis) that begins in childhood. Osteoporosis is caused by a shortage of calcium and other minerals in bones (decreased bone mineral density), which makes the bones brittle and prone to fracture. Affected individuals often have multiple fractures in the long bones of the arms and legs, especially in the regions where new bone forms (metaphyses). They also have fractures in the bones that form the spine (vertebrae), which can cause collapse of the affected vertebrae (compressed vertebrae). Multiple fractures can cause bone pain and lead to movement problems.
Inheritance patterns
The source lists the following possible inheritance patterns: Autosomal dominant. More than one pattern can apply in different cases.
Related genes
Other names
Childhood-onset primary osteoporosis
Idiopathic juvenile osteoporosis
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Lectures complémentaires et références
- Juvenile primary osteoporosis; MedlinePlus, National Library of Medicine.
- Hartikka H, Makitie O, Mannikko M, Doria AS, Daneman A, Cole WG, Ala-Kokko L, Sochett EB. Heterozygous mutations in the LDL receptor-related protein 5 (LRP5) gene are associated with primary osteoporosis in children. J Bone Miner Res. 2005 May;20(5):783-9. doi: 10.1359/JBMR.050101. Epub 2005 Jan 4.
- Korvala J, Juppner H, Makitie O, Sochett E, Schnabel D, Mora S, Bartels CF, Warman ML, Deraska D, Cole WG, Hartikka H, Ala-Kokko L, Mannikko M. Mutations in LRP5 cause primary osteoporosis without features of OI by reducing Wnt signaling activity. BMC Med Genet. 2012 Apr 10;13:26. doi: 10.1186/1471-2350-13-26.
- Rauch F, Travers R, Norman ME, Taylor A, Parfitt AM, Glorieux FH. The bone formation defect in idiopathic juvenile osteoporosis is surface-specific. Bone. 2002 Jul;31(1):85-9. doi: 10.1016/s8756-3282(02)00814-1.
- Zhang C, Liu Z, Klein GL. Overview of pediatric bone problems and related osteoporosis. J Musculoskelet Neuronal Interact. 2012 Sep;12(3):174-82.
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