Overview/Definition
Definition:
Rickets is a metabolic bone disease caused by vitamin D deficiency, inadequate calcium or phosphate intake, affecting growing bones in children
Vitamin D deficiency rickets is the most common form, caused by insufficient vitamin D synthesis or intake.
Epidemiology:
Rickets affects 60-70% of Indian children with subclinical vitamin D deficiency
Higher prevalence in Northern India (80%) compared to Southern states (40-50%)
Peak incidence between 6 months to 2 years of age.
Age Distribution:
Most common in infants 6-24 months during rapid growth phase
Adolescent rickets (10-16 years) during pubertal growth spurt
Congenital rickets in severe maternal vitamin D deficiency cases.
Clinical Significance:
Leading cause of preventable bone deformities in Indian children
Associated with increased respiratory infections, delayed tooth eruption, and growth retardation
High morbidity if untreated during critical growth periods.
Age-Specific Considerations
Newborn:
Congenital rickets manifests as craniotabes, delayed fontanelle closure, hypocalcemic seizures in first weeks of life
Maternal vitamin D deficiency is primary risk factor
Requires immediate high-dose vitamin D supplementation.
Infant:
Classic presentation with delayed closure of fontanelles, craniotabes, delayed tooth eruption, increased susceptibility to respiratory tract infections
Growth velocity may be normal initially but slows progressively.
Child:
Bone deformities become prominent - bowing of legs (genu varum/valgum), pectus carinatum, kyphoscoliosis
Dental problems, muscle weakness, bone pain
Height velocity significantly affected.
Adolescent:
Pubertal rickets presents with bone pain, muscle weakness, delayed puberty, increased fracture risk
Coxa vara, slipped capital femoral epiphysis complications
Psychological impact of deformities significant.
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Clinical Presentation
Symptoms:
Bone pain especially in legs and spine, muscle weakness, delayed motor milestones (sitting, walking), increased irritability, restlessness
Dental problems including delayed eruption, enamel defects, increased dental caries.
Physical Signs:
Craniotabes, delayed fontanelle closure, rachitic rosary (enlarged costochondral junctions), Harrison groove, pectus carinatum, widened wrists and ankles
Bowing deformities of legs (genu varum early, genu valgum later).
Severity Assessment:
Mild: Normal growth, subtle bone changes on X-ray, biochemical abnormalities only
Moderate: Growth retardation, clinical deformities, significant biochemical changes
Severe: Multiple deformities, fractures, tetany, seizures.
Differential Diagnosis:
Hypophosphatemic rickets (X-linked, autosomal), vitamin D-dependent rickets type 1 and 2, renal osteodystrophy, metaphyseal chondrodysplasia
Differentiate based on biochemistry, family history, response to vitamin D.
Diagnostic Approach
History Taking:
Dietary assessment for vitamin D and calcium intake, sunlight exposure history, exclusive breastfeeding without vitamin D supplementation
Family history of rickets, consanguinity
Maternal vitamin D status during pregnancy.
Investigations:
25-hydroxyvitamin D level (gold standard), serum calcium, phosphate, alkaline phosphatase, PTH levels
X-rays of wrists and knees for metaphyseal changes
Chest X-ray for rachitic rosary
Complete blood count, renal function tests.
Normal Values:
25(OH)D levels: Sufficient >30 ng/mL (75 nmol/L), Insufficient 20-29 ng/mL (50-74 nmol/L), Deficient <20 ng/mL (<50 nmol/L)
Severe deficiency <10 ng/mL (<25 nmol/L)
Alkaline phosphatase elevated 2-10 times normal.
Interpretation:
Low 25(OH)D with elevated PTH and alkaline phosphatase confirms vitamin D deficiency rickets
Low calcium and phosphate in active disease
X-ray shows delayed ossification, metaphyseal widening, cupping, fraying, pseudofractures.
Management/Treatment
Acute Management:
High-dose vitamin D3 supplementation: 60,000 IU weekly for 6 weeks for children >1 year
For infants: 2000-4000 IU daily for 6 weeks
Calcium supplementation 500-1000 mg daily
Monitor serum calcium weekly initially.
Chronic Management:
Maintenance vitamin D3: 400-1000 IU daily based on age and risk factors
Adequate calcium intake through diet or supplements
Regular monitoring of 25(OH)D levels every 3 months initially, then every 6 months.
Lifestyle Modifications:
Adequate sunlight exposure 15-30 minutes daily between 10 AM-3 PM
Dietary counseling for vitamin D rich foods (egg yolk, fish, fortified foods)
Breastfeeding mothers should receive vitamin D supplementation.
Follow Up:
Clinical assessment every 2 weeks initially for symptom improvement and complications
X-rays at 3 and 6 months to monitor healing
Growth monitoring monthly
Biochemical monitoring at 6 weeks, 3 months, then 6-monthly.
Age-Specific Dosing
Medications:
Vitamin D3 (cholecalciferol) preferred over D2
Treatment doses: Infants <1 year: 2000-4000 IU daily
Children 1-18 years: 60,000 IU weekly for 6 weeks OR 4000-6000 IU daily
Severe deficiency may require higher doses.
Formulations:
Oral drops for infants (400 IU/drop), sachets (60,000 IU), tablets (1000 IU, 2000 IU)
Injectable forms available for severe malabsorption
Calcium carbonate 500-1000 mg daily in divided doses with meals.
Safety Considerations:
Monitor for vitamin D toxicity - hypercalcemia, hypercalciuria, nephrocalcinosis
Avoid doses >10,000 IU daily unless severe deficiency
Check calcium levels weekly during high-dose treatment
Contraindicated in hypercalcemia.
Monitoring:
Serum 25(OH)D target levels 30-60 ng/mL (75-150 nmol/L)
Monitor calcium, phosphate, PTH, alkaline phosphatase
Urinalysis for proteinuria, hematuria
Renal ultrasound if nephrocalcinosis suspected.
Prevention & Follow-up
Prevention Strategies:
Universal vitamin D supplementation for all infants 400 IU daily from birth
High-risk groups (dark skin, limited sun exposure, exclusive breastfeeding) need higher doses
Pregnant women should receive 2000 IU daily.
Vaccination Considerations:
No specific vaccine interactions
Ensure age-appropriate immunizations are up to date
Vitamin D deficiency may impair immune response, making vaccination more important for preventing infections.
Follow Up Schedule:
Initial follow-up at 2, 4, 6 weeks for symptom improvement and biochemical normalization
Then 3, 6, 12 months for bone healing assessment
Annual screening for high-risk children
Growth monitoring every 3 months.
Monitoring Parameters:
Clinical: Growth velocity, bone deformity progression, dental health, muscle strength
Laboratory: 25(OH)D levels every 6 months, annual assessment of calcium, phosphate, PTH, alkaline phosphatase
Radiological: Annual X-rays until healing complete.
Complications
Acute Complications:
Hypocalcemic seizures, tetany, laryngospasm in severe deficiency
Increased susceptibility to respiratory tract infections
Dilated cardiomyopathy in severe cases
Delayed wound healing and increased bleeding tendency.
Chronic Complications:
Permanent bone deformities (genu varum/valgum, pectus carinatum, kyphoscoliosis), short stature, dental problems (delayed eruption, caries, enamel defects)
Pelvic deformities affecting future childbirth in girls.
Warning Signs:
Worsening bone pain, new onset seizures, muscle cramps, increased frequency of infections, failure to improve with treatment, progressive deformities despite adequate treatment
Symptoms of vitamin D toxicity during treatment.
Emergency Referral:
Hypocalcemic seizures requiring IV calcium gluconate, respiratory distress, signs of heart failure, severe deformities requiring orthopedic intervention
Non-response to standard treatment suggesting vitamin D-dependent rickets.
Parent Education Points
Counseling Points:
Rickets is completely preventable and treatable with vitamin D supplementation
Early treatment prevents permanent deformities
Compliance with treatment is crucial for bone healing
Dietary sources alone are often insufficient in Indian context.
Home Care:
Ensure daily vitamin D supplementation as prescribed
Encourage safe sun exposure during recommended hours
Provide calcium-rich foods (milk, yogurt, cheese, green leafy vegetables)
Monitor child for improvement in symptoms and activity levels.
Medication Administration:
Give vitamin D supplements with meals for better absorption
Weekly high-dose can be given on fixed day to ensure compliance
Mix liquid preparations with food if child refuses direct administration
Store supplements in cool, dry place.
When To Seek Help:
Immediate medical attention for seizures, muscle cramps, difficulty breathing, or signs of severe illness
Routine follow-up if no improvement in bone pain or activity level after 4-6 weeks of treatment
New onset bone deformities during treatment.