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Rickets

Synonyms

Also known as Vitamin D-dependent rickets, Phosphopenic rickets, Calcipenic rickets, Acquired rickets and Nutritional rickets

Overview

Rickets is a medical condition commonly seen in children. It is characterized by bowed legs and a curved spine, which causes a lot of pain and discomfort. Depending on the type of rickets your child develops, it can be hereditary (genetic in nature) or acquired (because of low consumption of essential nutrients).Mainly, a lack of essential nutrients such as Vitamin D, calcium, and phosphorus have been attributed to the development of rickets. Other factors such as living in cold countries, having dark skin, and genetics can also increase the risk of developing rickets.Mostly seen in children between the ages of 6 months to 2 years, your child can combat the symptoms of rickets with Vitamin D and calcium supplements and high exposure to sunlight.Rickets can be prevented by proper exposure to sunlight and having a diet rich in Vitamin D, calcium, and phosphorus. It can also be treated by taking Vitamin D supplements and exposure to sunlight.

Key Facts

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Symptoms

Rickets is described as the weakening and softening of bones, which is caused by prolonged lack of exposure to Vitamin D. Look out for the following rickets symptoms in your child to get quick and effective treatment.

  • Fragile bones: A symptom commonly associated with rickets and severe calcium and Vitamin D deficiency can lead to very weak bones, increasing the risk of fractures. Your child may have fragile bones if they suffer from fractures frequently.
  • Pain in the spine and legs: Due to the bones being soft and weak, they become sore, making it very painful for a child. This might make your child reluctant to walk, causing them to waddle and tire easily after a few steps.
  • Teeth problems: A child with rickets may show abnormalities in teeth structure, such as holes in the enamel, increased cavities, and delays in teeth growth and formation. Good dental care helps your children develop good dental habits.
  • Skeletal deformities: When your child’s body has a deficiency in the required nutrients, rickets can lead to various skeletal abnormalities. These include bowed legs, which refers to a curve in the spine, protruding breastbone, an oddly shaped skull, and pelvic deformities. Nutritional rickets usually presents in infancy or preschool age, often as widened wrists or bowing of legs.
  • Retarded growth and development: Delays in bone development and growth can lead to your child having short stature and stunted growth.
  • Craniotabes: This disorder is characterized by soft skull bones and wide fontanels, frequently seen in infants older than three months.
  • Rachitic chest: In this case, a child is seen with a wide costochondral junction, the joint between the ribs, and Harrison’s groove, a depression at the lower side of the rib cage that develops when the diaphragm pulls the soft ribcage. A condition known as rachitic rosary can result in thickening caused by nodules forming on the costochondral joints, appearing as a visible bump in the middle of each rib on each side of the body, resembling a rosary.
  • Hypocalcemia: Defined as low calcium levels in the blood, infants with hypocalcemia may show signs and symptoms such as muscle spasms and convulsions.

Cause

Rickets is a bone disorder in children that leads to weak bones, muscle pain, and skeletal deformities. Today, nutritional rickets, or rickets caused by the deficiency of Vitamin D, calcium, or phosphorus, are the most common bone diseases affecting children. In addition to these deficiencies, rickets can also be caused by genetics, drugs, or lack of mineralization. The common types of rickets caused by various deficiencies include:

  • Calcipenic rickets: This is the most common form of rickets, often associated with Vitamin D deficiency reported in children. It develops due to a deficiency of calcium in the body, which can occur due to absorption issues seen in diseases such as celiac disease.
  • Phosphopenic rickets: This type is caused by a deficiency of phosphorus in the body. Contributing factors may include low intake of phosphorus-rich foods, problems in phosphorus absorption by the intestine, or high renal loss.
  • Vitamin D-dependent rickets: This is the most prevalent type of rickets affecting children globally, caused by Vitamin D deficiency. Contributing factors include problems in the synthesis of Vitamin D, defects in the Vitamin D receptor, low consumption of Vitamin D-rich foods, and inadequate exposure to sunlight.
  • Genetics: Rickets can also be genetic, attributed to mutations in certain genes that inhibit the synthesis of Vitamin D in the body.
  • Familial hypophosphatemic rickets: This is the most commonly inherited form of refractory rickets, inherited as X-linked dominant with variable penetrance. Sporadic instances are frequent, and autosomal recessive inheritance has also been reported. The gene responsible for X-linked hypophosphatemic rickets is the PHEX gene (phosphate-regulating gene with homology to endopeptidases on the X chromosome).
  • Renal tubular acidosis (RTA): Proximal RTA is an important cause of refractory rickets in children. It is characterized by hyperchloremic metabolic acidosis with normal blood levels of urea and creatinine. Patients may show low levels of phosphate, aminoaciduria (amino acids in the urine), and proteinuria (proteins in the urine). Treatment with bicarbonate and phosphate supplementation can lead to healing of rickets.
  • Chronic kidney disease: Refractory rickets may occasionally present as a manifestation of chronic kidney disease. The features of mineral bone disease depend on the patient's age and disease duration. Elevated blood levels of creatinine, phosphate, and parathormone are characteristic. Therapy includes restricting phosphate intake and providing supplements of calcium and active Vitamin D analogs.
  • Oncogenic rickets: Mesenchymal tumors may secrete fibroblast growth factors that result in phosphaturia (phosphates in urine), hypophosphatemia (low levels of phosphorus), rickets, and muscle weakness.
  • Secondary to other diseases:
    • McCune-Albright syndrome: A disorder affecting bones, skin, and several hormone-producing (endocrine) tissues.
    • Epidermal nevus syndrome: Characterized by skin lesions known as epidermal nevi, associated with additional extra-cutaneous abnormalities affecting the brain, eye, and skeletal systems.
    • Dent's disease: A chronic kidney disorder causing kidney problems due to damage to the proximal tubules.

RiskFactors

There are certain factors that can make your child more vulnerable and at risk of developing rickets. They include:

  • Individuals with dark skin are more prone to developing rickets due to high levels of the pigment melanin, which reduces the skin’s ability to produce Vitamin D from sunlight.
  • Lack or low exposure to sunlight in colder regions of India.
  • Low consumption of foods rich in Vitamin D, calcium, and phosphorus.
  • Infants who are exclusively breastfed, as breast milk contains low amounts of Vitamin D.
  • Individuals who spend more time indoors during daylight hours.

Note: Our bodies produce more Vitamin D when exposed to sunlight, increasing the risk for rickets in areas with limited sunlight.

Diagnosis

You must go to a pediatrician as the first point of contact. They will first conduct a physical examination to check for tenderness or pain in the bones by lightly pressing on them. During the examination, the doctor will gently press on your child's bones, checking for abnormalities. He or she will pay particular attention to your child's:

  • Skull: Babies who have rickets often have softer skull bones and might experience a delay in the closure of the soft spots (fontanels).
  • Legs: While even healthy toddlers are a little bowlegged, exaggerated bowing of the legs is common with rickets.
  • Chest: Some children with rickets develop abnormalities in their rib cages, which can flatten and cause their breast bones to protrude.
  • Wrists and ankles: Children who have rickets often have wrists and ankles that are larger or thicker than normal.

Once that is done, your pediatrician may order certain tests to help make a definitive rickets diagnosis. These tests include:

  • Blood tests: These tests will measure the levels of calcium, phosphorus, parathyroid hormone, and alkaline phosphatase (ALP) in your blood.
  • Urinary calcium: Establishing an inappropriately high urinary calcium excretion in the face of low serum calcium levels is important for the diagnosis of rickets.
  • Bone X-rays: X-rays will be conducted to check for any deformities in the bones.
  • Bone biopsy: In rare cases, if the situation demands it, a bone biopsy will be performed, which involves the removal of a small part of the bone for laboratory analysis.
  • DEXA scan: Also known as bone densitometry, it is a means of measuring bone mineral density (BMD) using spectral imaging.

Prevention

Here are a few tips and suggestions that can help in preventing the development of rickets:

  • Sun Exposure
    The National Health Service of England suggests that exposing your hands and face to the sun every day can be useful in preventing rickets. Limit your child's sun exposure to no more than 60 minutes, depending on their skin type. If exposure exceeds this time, apply sunscreen to prevent sunburn. Reduce sun exposure between 10 AM and 4 PM, as UV rays are most intense during this period. Here's more on how to choose the right sunscreen and the correct way to use it.
  • Diet Rich in Phosphorus, Calcium, and Vitamin D
    A diet filled with essential nutrients such as Vitamin D, calcium, and phosphorus is important for healthy bone development and growth. Foods like different types of fish, meat, egg yolks, and mushrooms can help prevent Vitamin D deficiency. It is also recommended to include foods rich in calcium and phosphorus in the diet. Exposure to ultraviolet B light, cod liver oil, halibut-liver oil, and viosterol are all sources of Vitamin D.
  • Vitamin D Supplements
    Adults, pregnant women, and children over the age of 1 year are advised to take 10 mcg of Vitamin D supplements daily. Children from birth up to 1 year old can take 8.5 mcg to 10 mcg of Vitamin D tablets daily or consume 500 ml of infant formula daily. While the body's Vitamin needs are generally met through diet, Vitamin D is an exception. Read more about it.

Treatment

For the treatment of rickets, a diet rich in Vitamin D, calcium, and phosphorus can help. Other treatment options include:

  • Surgery: Deformed bones due to rickets can often be treated without surgery. However, in severe cases, surgery may be necessary to correct severely bowed legs and other bone deformities. Chest or pelvic deformities and growth retardation may be permanent and cannot be treated through surgery.
  • Stoss therapy: This treatment involves administering a single large dose of Vitamin D orally or intramuscularly for infants less than a month old. Oral treatment is preferred as it quickly restores Vitamin D levels. This regimen is generally safe and effective for treating Vitamin D deficiency rickets.
  • Multiple doses of Vitamin D: In this regimen, small daily doses of Vitamin D are given based on the child's age. The daily doses for infants less than a month old, 1-12 months, and more than 12 months are 1000 IU, 1000-5000 IU, and 5000 IU, respectively, for a period of 2 to 3 months. Eventually, a daily dose of 400 IU is recommended for ongoing consumption.
  • Calcium and phosphate supplements: For rickets resulting from genetic factors, treatment by a pediatric endocrinologist and orthopedic specialist is advised. In cases of Vitamin D-dependent rickets, children are treated with high doses of calcitriol and calcium. If a child is diagnosed with familial hypophosphatemic rickets, oral phosphate supplements along with Vitamin D are prescribed as treatment.

HomeCare

Doctors have pointed out that diet plays an incredibly important role in the prevention and treatment of rickets. Follow these steps to fight rickets:

  • You must give your child 400 IU/day of vitamin D supplementation to combat Vitamin D-dependent rickets.
  • If your child is still on breastmilk, completely or partially, introduce 400 IU/day of Vitamin D into the diet until he/she starts receiving at least 1 liter of formula per day.
  • Your child should be given 400 IU/day of Vitamin D if he/she is receiving less than 1 liter of formula per day and is not consuming mother’s milk.
  • Include foods such as milk, yogurt, cheese, meat, and fish to help increase the levels of Vitamin D, calcium, and phosphorus.
  • If your child is lactose intolerant, you can give orange juice or soy milk, as both contain high concentrations of Vitamin D.
  • When you think of calcium, you may only consider a glass of milk. However, there is much more to calcium than just milk and dairy products. Read more about calcium-rich foods and supplements.

Complications

Rickets caused by a deficiency of calcium may lead to a child experiencing seizures, breathing problems, and cramps. In the long run, it can result in serious complications, including:

  • Short stature
  • Multiple bone fractures
  • Pneumonia (lungs become filled with fluid)
  • Dental hypoplasia (poor formation of enamel)
  • Cardiomyopathy (disease of the heart muscle where the heart muscle is unable to pump enough blood)
  • Hydrocephalus (fluid buildup in the cavities of the brain)
  • Seizures
  • Cavities in the teeth
  • Irregularities in the bones

AlternativeTherapies

Ayurveda has been treating various medical conditions for centuries, and many people have experienced its benefits. Below are a few Ayurvedic remedies that may assist in the treatment of rickets. Consult an Ayurvedic practitioner for proper guidance.

  • Pearl ash: Administer up to 125 mg of moti bhasma or pearl ash with two teaspoons of honey to your child twice a day. In case of a critical condition, consult an Ayurvedic practitioner.
  • Oatstraw bath: Take dried oatstraw herb and boil it in 4 liters of water. Use this for bathing twice a week.
  • Dandelion tea: Dry dandelion leaves and add them to a cup of boiling water. Let the leaves steep for about 5 minutes. Afterward, strain the water and serve the tea to your child.
  • Nettle herb: Add an ounce of dried nettle herb to a jar and pour one-quarter of hot water into it. Cover the jar and let it sit overnight. Strain the water and drink two cups daily.
  • Horsetail tea: Add one teaspoon of horsetail tea leaves to 2 cups of hot water along with oat straw herb. Let it steep for 5 to 7 minutes. Strain the water and drink the tea after each meal.

Living With Disease

If your child has been diagnosed with rickets, you can follow these tips to effectively manage the disease:

  • Give Vitamin D supplements every day after consulting your doctor.
  • Make your child sit under the sun for 10-15 minutes (depending on their skin type) every day.
  • Provide a diet rich in meat, fish, milk, and dairy products.
  • Encourage your child to engage in physical exercise daily to strengthen their bones.
  • Take your child to a qualified physiotherapist regularly to improve pain management and mobility.
  • If your child continues to experience muscle pain and cramps, consult your doctor for further treatment.
  • Consider seeing a qualified physiotherapist to enhance physical functioning and pain management.
  • Doctors might suggest applying braces in some cases to ensure straighter longitudinal growth and provide support to limbs. Braces are also used post-surgery. However, there is no conclusive study confirming the effectiveness of bracing in treating or managing rickets. If your doctor advises bracing, ensure that your child wears them properly and consistently.
  • Rickets can be very painful for a child. While the symptoms may be severe and alarming, they can be effectively treated with proper vigilance from caregivers.
  • Caregivers should ensure a proper diet, physiotherapy, and outdoor activities for the child.
  • To get sufficient Vitamin D from sunlight, expose your back to the sun.

For more information on ways to provide your body with the Vitamin D it needs, click here!

References

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Frequently asked questions

Adults may develop osteomalacia, a bone disease characterized by the softening and weakening of bones due to severe Vitamin D deficiency, leading to frequent bone fractures.
Yes, rickets can be confused with osteogenesis imperfecta, a genetic bone formation disorder, and osteomalacia, which is Vitamin D deficiency in adults.
Fortified orange juice can help combat Vitamin D deficiency, as studies show it increases Vitamin D concentration levels and contributes to overall health.
With sunlight exposure and Vitamin D-rich foods, rickets can be treated quickly; studies show 47% of patients healed within three months, and 100% within six months.
Children should receive 10 to 30 minutes of sunlight daily in tropical countries and 1 to 2 hours in cold countries, preferably during morning and evening hours. Dark-skinned children may need additional Vitamin D sources, and prolonged sun exposure is not advisable.
A pediatrician should be the first point of contact. If unavailable, a general physician can be consulted, and if further treatment is necessary, an orthopedic surgeon may be involved.
Lactose intolerant children can obtain Vitamin D from soy milk, orange juice, mushrooms, meat, fish, and Vitamin D supplements.