What’s Rickets?

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Rickets is a disease caused by low levels of calcium and phosphorus in growing children’s bones, leading to skeletal deformities, muscle weakness, seizures, and chronic pain. The disease can be prevented by ensuring children receive enough vitamin D in their diet and sun exposure. There are four main types of rickets, and many subtypes caused by various factors that prevent the body from absorbing or processing vitamin D, calcium, or phosphorus. Treatment includes incorporating vitamin D into the child’s diet, sunlight exposure, and sometimes specific types of vitamin D supplements. In severe cases, surgery may be necessary to correct bone deformities.

Rickets is a disease in which the bones of an infant or growing child have abnormally low levels of calcium and phosphorus, making them weak and soft. This can lead to permanent deformities of the skeleton and teeth, failure to thrive properly, muscle weakness, seizures and chronic pain. Although the effects are sometimes irreversible, most types of rickets can be prevented by making sure your child gets enough vitamin D in their diet and gets enough sun exposure. This is because vitamin D is essential for bones to mineralize or become hard; and because sun exposure is one of the body’s ways of making vitamin D. While this condition is relatively rare in developed countries, it is quite common in undeveloped countries.

Four main types
There are four main types of rickets and a number of highly specific subtypes. The main ones are:

Nutritional rickets: This is one of the more common types and is caused by a dietary deficiency of vitamin D, calcium, phosphorus, or all three.
Vitamin D resistant rickets – also called X-linked hypophosphatemia, this is a genetic condition thought to be caused by a defect in the kidneys. Children with the condition produce too much phosphate, which makes it difficult for bones to harden. Unlike other types, this one isn’t usually linked to a vitamin D deficiency.
Vitamin D-dependent rickets — There are two subtypes of this condition, called type I and type II. Type I is a genetic condition in which a mutation in a certain gene makes the body unable to convert a substance called calcifediol into calcitriol, the active form of vitamin D. Type II is also genetic and is caused by a mutation that it makes some of the cells in the body to be unable to recognize calcitriol.
Congenital rickets – this is a condition in which a child is born with the disorder due to the mother having a vitamin D deficiency or osteomalacia, the adult version of rickets.

Other more specific types include renal osteodystrophy, drug induced rickets, hepatobiliary rickets, and hypervitaminosis D rickets. The reason there are so many specific types of this condition is that many different problems can prevent the body from absorbing or properly process vitamin D, calcium or phosphorus. All types of this condition can usually be diagnosed through a blood test and sometimes through a urine test. Doctors may also take x-rays or perform a bone density scan to see how damaged the bone and teeth are.

Signs
The main signs of this condition are skeletal deformities, including:

Thickened wrists: This is often one of the first signs.
Legs bent, particularly in children over three years of age, or knees thumping.
The fontanelle or “soft spot” on a baby’s head takes a long time to harden.
A protruding chest caused by a protruding breastbone, sometimes called a “pigeon breast.”
Necklace-like bumps along the ribs sometimes called rachitic rosaries.
A curved spine.
Brittle and easily brittle bones.

Other signs include abnormally short stature or an inability to grow at a normal rate; muscle weakness; chronic pain; and problems with your teeth, including holes in your teeth and abnormally soft teeth. Sometimes children with this condition also have seizures.

Our initiatives
The underlying cause of this condition is a problem with the body absorbing or processing calcium or phosphorus, two minerals that are essential for proper bone growth. A vitamin D deficiency can cause many of these problems, as the body needs vitamin D to absorb calcium and phosphorus from foods. This is why the two main risk factors for rickets are a nutritional deficiency of vitamin D and insufficient sun exposure, as the body can make vitamin D on its own if it absorbs sunlight. Some genetic conditions can also prevent the body from properly absorbing or processing vitamin D, phosphorus or calcium, which can also lead to this condition.

In general, children are most at risk of developing this condition when they are between six and 24 months old, due to how quickly their bones grow during this time. Another risk factor for this condition includes having dark skin, as darker pigmented skin produces less vitamin D when exposed to the sun. Children who live in areas that typically don’t get much sun are at a higher risk for this condition than those who live in sunny places. Some antiepileptic drugs also appear to be linked to this condition.

Certain health conditions can also put a child at risk for this condition, including cystic fibrosis, kidney-related problems, and digestive disorders such as celiac disease, lactose intolerance, or inflammatory bowel disease. Chronic or long-term malnutrition, diarrhea or vomiting are also risk factors. All of these risk factors are related to how vitamin D is processed or absorbed by the body. For example, children with a kidney condition called renal tubular acidosis are sometimes unable to absorb vitamin D normally, or those with long-term diarrhea may not be able to extract or store enough vitamin D from food before it passes out of the body. Those with lactose intolerance often don’t consume enough vitamin D products, leaving them at risk of deficiency.

There are also lifestyle factors that can put children at risk, including:

Feeding the child a strict vegetarian or vegan diet without supplementing vitamin D.
Not letting your child get enough sun: This sometimes happens accidentally by making your child wear strong sunscreen all the time, or by having them veil all the time for religious reasons.
Breastfeed the baby exclusively or for an extended period. That’s because human breast milk doesn’t have enough vitamin D for a growing baby. Pediatricians advise women who wish to feed their infants entirely on breast milk or breastfeed for extended periods of time to supplement the infant’s diet with vitamin D drops.

Prevention and treatment:

Many types of rickets can be prevented and treated by making sure your child gets enough vitamin D in their diet and gets enough sunlight. It’s important to have both of these components, as it’s difficult for the body to get enough vitamin D from either alone.

Ways to incorporate vitamin D into a child’s diet include

Make sure your child is drinking enough milk, especially vitamin D-fortified milk and other dairy products.
Incorporate other vitamin D-rich foods into your child’s diet, including fortified cereals, eggs, mushrooms, and some fish, including sockeye salmon, sardines, and herring.
Supplement with vitamin D drops or pills under the supervision of a doctor. This is especially important for babies on a vegan or vegetarian diet, or for babies who are fed only breast milk.
Children should also be able to play outside in the sun without sunscreen for at least 15 to 30 minutes a day so their skin can absorb enough sunlight.

These steps may not be sufficient for children with certain genetic types of rickets, especially vitamin D resistant rickets. In those with vitamin I deficiency rickets, doctors often recommend that children be given high levels of specific types of vitamin D supplements. It’s important to do so only under the supervision of a doctor, as feeding children plenty of vitamin D can lead to a condition called hypercalcemia, in which the blood has too much calcium. This can lead to vomiting, constipation, muscle weakness and abdominal pain, among other things. Vitamin D deficiency type 2 rickets does not respond well to regular vitamin D supplementation, but it can sometimes be treated with calcitriol, the concentrated and active form of vitamin D, and calcium supplements.

There are also ways to treat bone deformities that accompany this condition. Some skeletal deformities correct themselves after the child receives treatment, but children and adults can also wear braces and maintain correct posture to counteract bent legs and spinal complications. In severe cases, surgery may be the only way to correct the deformities.
Video
Video 1 — A video with information about this condition and vitamin D supplementation, including x-ray images.
Video 2 — A technical video on bone formation in children with this condition.
Additional Resources
www.medicinenet.com — An overview of the condition, including pictures and quizzes.

http://emedicine.medscape.com — More information about this condition, including its history, pathophysiology and epidemiology.

www.thachers.com — Pictures of symptoms of this condition.

www.wheelessonline.com — Learn more about vitamin D resistant rickets.

www.ncbi.nlm.nih.gov — An overview with causes, symptoms, diagnoses, and complications.




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