Rickets


Rickets

Description, Causes and Risk Factors:

ICD-10: E55.0

Alternative Name: Rachitis.

Rickets is a condition that affects growing bones - so it only occurs in children. Bones are made strong by a mineral which contains calcium. When a child has rickets, there is not enough mineral in the bones. This makes the bones softer and weaker than normal, and also causes weak muscles.

The primary pathology is defective mineralization of bone matrix. The primary bone matrix mineral hydroxyapatite (Ca10 (PO4)6 (OH)2). Any disease that limits the availability of calcium or phosphate will lead to rickets.

Main categories:

    Hypocalcaemia rickets (Disorders of vitamin D metabolism or action).

  • Hypophosphatemic rickets (Disorders of phosphate metabolism).

The child's growing bones fail to develop properly due to a lack of vitamin D. This can result in soft and weakened bones, fractures, bone and muscle pain, and bony deformities. You can help protect your child from the effects of rickets by understanding their risk factors for vitamin D deficiency and taking steps to prevent it.

Children with naturally dark skin or inadequate exposure to sunlight are among those most commonly affected. Having a mother with vitamin D deficiency also increases a child's risk. Other causes may be nutritional deficiencies and disorders of the liver, kidney or small intestine. A similar condition can occur in adults, but this is called osteomalacia.

Risk Factors:

    Not enough exposure of the skin to sunlight.

  • Skin color - the skin pigment in children with naturally dark skin tends to absorb less sunlight than fair skin.

  • Lack of vitamin D or calcium in the diet.

  • Exclusive breastfeeding (without vitamin D supplements) of infants whose mothers have vitamin D deficiency.

  • Disorders of the intestine, liver or kidneys that prevent the body from absorbing vitamin D or converting it into its active form.

  • Disorders that reduce digestion or absorption of fats, as vitamin D is a fat-soluble vitamin.

Symptoms:

General Symptoms:

    Bone pain (arms, legs, pelvis, and spine).

  • Delayed formation of teeth.

  • Increased cavities in the tooth.

  • Progressive weakness.

  • Impaired growth.

  • Increased bone fracture.

  • Muscle cramps.

  • Short stature.

  • Skeletal deformities (asymmetrical or odd-shaped skull, bowlegs, bumps in the ribcage (rachitic rosary), breastbone pushed forward (pigeon chest), pelvic deformities, spine deformities (spine curves abnormally, including scoliosis or kyphosis).

Signs:

    The earliest sign of rickets in infant is craniotabes(abnormal softness of skull).

  • Delayed closure of anterior fontanel.

  • Widening of the forearm at the wrist (widenedmetaphysis, area between epiphysis and diaphysis).

  • Swelling of the costochondral junction.

  • Harrison's groove.

  • Lateral indentation of the chest wall at the site of attachment ofdiaphragm.

  • Bowing of tibia and fibula may be observed at any age.

  • Growth retardation due to impaired calcification ofbone epiphysis (epiphysis, area of growth plates).

  • Hypocalcemic manifestations.

  • Generalized osteopenia

  • Widening of the unmineralized epiphyseal growthplates.

  • Fraying of metaphysis of long bones.

  • Bowing of legs.

  • Pseudo-fractures (also called loozer zone).

Diagnosis:

It may be suspected from the child's medical history, symptoms, or lifestyle. Blood can be tested for vitamin D and calcium levels. Also, blood tests for liver function may show changes linked to rickets. A bone X-ray (usually of the wrist bones) is often done. This can show changes due to rickets (and needs only a very small amount of X-rays).

A physical exam reveals tenderness or pain in the bones, rather than in the joints or muscles.

The following tests may help diagnose rickets:

    Arterial blood gases.

  • Blood tests (serum calcium).

  • Bone biopsy (rarely done).

  • Bone x-rays.

  • Serum alkaline phosphatase.

  • Serum phosphorus.

Other tests and procedures include the following:

    ALP (alkaline phosphatase) isoenzyme.

  • Calcium (ionized).

  • PTH (parathyroid hormone).

  • Urine calcium.

Vitamin D deficiency rickets findings:

    Low- normal serum calcium level.

  • Increased secretion of PTH (secondaryhyperparathyroidism) to compensate for low calcium.

  • Hyperparathyroidism will increase renal excretion ofphosphate, leads to low serum phosphate level

  • Elevated alkaline phosphatase enzyme.

  • Reduced urinary calcium level.

  • Low level of both 25 and 1,25-dihydroxyvitamin D.

  • Elevated parathyroid hormone level.

Hypophosphatemic rickets findings:

    Low serum phosphate level.

  • Normal calcium level.

  • Normal parathyroid hormone level.

  • High alkaline phosphatase level.

  • In-appropriate low or normal 1,25-dihydroxyvitamin D.

Treatment:

The goals of treatment are to relieve symptoms and correct the cause of the condition. The cause must be treated to prevent the disease from returning. Replacing calcium, phosphorus, or vitamin D that is lacking will eliminate most symptoms of rickets. Dietary sources of vitamin D include fish, liver, and processed milk. Exposure to moderate amounts of sunlight is encouraged.

Vitamin D supplements: This is generally taken as a form of vitamin D called ergocalciferol or calciferol. The vitamin D is given in high doses, in order to improve the rickets quickly.

Vitamin D can be taken as liquids, tablets or injections. The liquids/tablets can be taken on a daily, weekly or monthly basis, depending on the dose needed and on which option is preferred. If injections are used, they are not needed very often. For example, the first two doses could be given a month apart, followed by a repeat injection every six months.

If lack of calcium is part of the problem, calcium supplements can also be taken. These can be liquids or tablets. If calcium levels are severely low and causing problems, calcium can be given by an infusion (a 'drip') in hospital.

NOTE: The above information is educational purpose. The information provided herein should not be used during any medical emergency or for the diagnosis or treatment of any medical condition.

DISCLAIMER: This information should not substitute for seeking responsible, professional medical care.

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