Juvenile primary osteoporosis
Juvenile primary osteoporosis is a rare skeletal disorder characterized by thinning bones that begin in childhood, leading to increased fracture risk and bone pain.
Overview
Juvenile primary osteoporosis is a skeletal disorder characterized by thinning of the bones that begins in childhood. The condition is caused by a shortage of calcium and other minerals in the bones, known as decreased bone mineral density, which makes the bones brittle and prone to fracture.
Symptoms
Affected individuals often experience the following:
- Multiple fractures in the long bones of the arms and legs, particularly in the metaphyses (regions where new bone forms).
- Fractures in the vertebrae, which can lead to the collapse of the affected bones (compressed vertebrae).
- Bone pain.
- Movement problems resulting from multiple fractures.
Causes & Risk Factors
The condition is often linked to mutations in the LRP5 gene. This gene provides instructions for making a protein involved in a signaling pathway that regulates bone mineral density. Mutations result in an LRP5 protein that cannot transmit signals correctly, impairing bone development.
When the cause is unknown, the condition is often referred to as idiopathic juvenile osteoporosis. It is likely that mutations in other, currently unidentified genes are also involved.
Associated Gene
- LRP5
Inheritance
This condition is inherited in an autosomal dominant pattern, meaning one copy of the altered gene in each cell is sufficient to cause the disorder.