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Rickets in Children: Causes, Prevention, Diagnosis, and Treatment

What Is Rickets?

Rickets is defective mineralization of growing bone (growth plates) due to vitamin D, calcium, or phosphate deficiency. It occurs only in children (before epiphyseal closure); adult equivalent is osteomalacia.

Causes

  • Vitamin D deficiency (most common): Inadequate sunlight (latitude, season, sunscreen, indoor lifestyle, dark skin), low dietary intake, malabsorption (celiac, CF, IBD).
  • Calcium deficiency: Low dairy intake, high phytate/oxalate diets.
  • Phosphate deficiency: Rare; X-linked hypophosphatemic rickets (PHEX mutation), Fanconi syndrome.
  • Genetic: VDR mutation (vitamin D–dependent rickets type 2).

At-Risk Groups

  • Breastfed infants without vitamin D supplementation (400 IU/day from birth)
  • Dark-skinned children in high latitudes
  • Children with malabsorption syndromes
  • Strict vegan diets without supplementation
  • Chronic kidney disease

Clinical Features

  • Bone pain, tenderness
  • Deformities: bowed legs (genu varum), knocked knees (genu valgum), rachitic rosary (costochondral beading), Harrison's groove, craniotabes
  • Delayed fontanelle closure, dental enamel defects
  • Growth failure, hypotonia, developmental delay
  • Seizures (hypocalcemia)

Diagnosis

  • Labs: Low 25-OH vitamin D, low/normal calcium, low phosphate, HIGH ALP, HIGH PTH (secondary hyperparathyroidism)
  • X-rays: Widening/fraying of metaphyses, cupping, splaying (wrist/knee)

Treatment

  • Vitamin D (stoss therapy): 50,000–600,000 IU single/multiple doses OR daily 2,000–4,000 IU × 3 months.
  • Calcium: 500–1,000 mg/day elemental.
  • Phosphate if hypophosphatemic rickets.
  • Monitor: ALP normalizes in weeks; radiographic healing in months.

Prevention

  • Vitamin D 400 IU/day for all breastfed infants; 600 IU/day >1 yr.
  • Safe sun exposure (10–15 min midday, arms/legs).
  • Fortified foods (milk, cereal, orange juice).
  • Screen high-risk children.

Rickets is entirely preventable and treatable. Early intervention prevents permanent skeletal deformities.

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