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What are Bone Metabolic Diseases?

Metabolic bone diseases encompass a large spectrum of disorders that are commonly caused by abnormalities of minerals such as calcium, phosphorus, magnesium or vitamin D. Some of these conditions are reversible once the underlying defect has been identified and treated; some will stabilize once the bones stop growing, while still others will require lifetime management and treatment. Some children's bone disorders are also hereditary and may lead to other bone conditions.

We treat primarily the following bone diseases:


Rickets is an abnormality that causes a child's bones to become soft leading to fractures and deformities. There are many kinds of rickets with various causes.

The most common form of childhood rickets is caused by vitamin D deficiency due to a poor diet and/or lack of exposure to sunlight. Lack of calcium in the diet may also lead to rickets. Genetic forms of rickets are due to diseases in the metabolism of vitamin D, calcium or phosphorus.  As a result, the bones do not have the proper vitamins and minerals to grow and develop appropriately. Rickets is one of the most common childhood diseases in many developing countries.


When rickets develops in infants, the entire skull may be soft. Older infants may be slow to crawl or walk. As your child grows, the rest of the bones become soft and begin to grow abnormally; the legs may bow and a curve may form in the spine.


If you suspect your child may have rickets, discuss the condition with your doctor. A diagnosis can be made through blood tests and X-rays.


Most cases of rickets that are caused by vitamin D deficiency can be cured by adding a vitamin D supplement to the diet. These cases can be managed by your pediatrician. Rare cases or recurring problems may benefit from the expertise provided by the Bone Metabolic Clinic which involves a multidisciplinary team of health care professionals including pediatric doctors, nurses, advanced practice nurses and dietitians who are experienced and trained in treating this disorder. 


Osteoporosis is a bone disorder that causes the bones to become weak and brittle. Osteoporosis in children is a rare condition that is most often caused by other medical conditions or the medications used to treat them. Common diseases that may lead to pediatric osteoporosis include juvenile rheumatoid arthritis, asthma, hormonal disorders, dermatomyositis (a skin condition), inflammatory bowel disease, muscular dystrophy or a bone marrow or organ transplant. These conditions are treated with corticosteroids, which can lead to a decrease in bone mass. Osteogenesis imperfecta is a genetic form of pediatric osteoporosis that is present at birth. Our Osteogenesis Imperfecta Clinic specializes in the treatment and management of this condition. In some cases, the cause of osteoporosis is unknown. This is called idiopathic juvenile osteoporosis (IJO).


Children with osteoporosis may complain of aching or pain in the bones, especially the limbs and spine. The bones may also break easily, often from a simple fall or trauma to the bones. Children with osteogenesis imperfecta will also develop brittle bones as well as curved bones, scoliosis, muscle weakness, joint laxity, fragile skin, blue sclera, brittle teeth, breathing problems, shortness of stature and hearing loss. Idiopathic juvenile osteoporosis (IJO) usually occurs in children just before puberty begins between the ages of 8 and 14. These children can develop symptoms such as fractures in the lower limbs; pain that begins in the lower back and travels to the ankles; and difficulty walking. Idiopathic juvenile osteoporosis commonly lasts about two to four years and may then go away without causing any permanent disability or growth problems.


Children with osteoporosis are diagnosed through a combination of tests including a physical examination, blood tests, DNA tests, bone X-rays and a DEXA scan (dual energy X-ray absorptiometry) - a test for measuring bone mineral density. 


The Bone Metabolic Clinic at Children's uses a combination of vitamin D replacement therapy, bisphosphonate therapy, prescription drugs and nutritional consultations to treat pediatric osteoporosis. With the exception of idiopathic juvenile osteoporosis, childhood osteoporosis cannot be cured. However, your child can live a nearly normal life with proper management of the condition.