Rickets is deficient mineralisation at the growth plate of long bones, resulting in growth retardation. If the underlying condition is not treated, bone deformity occurs, typically causing bowed legs and thickening of the ends of long bones.
Rickets only occurs in growing children before fusion of the epiphyses, and typically affects the wrists, knees, and costochondral junctions.
Rickets occurs primarily as a result of a nutritional deficiency of vitamin D, but can be associated with nutritional deficiencies of calcium or phosphorus. Hypophosphataemic rickets is a common genetic cause of rickets.
The mainstay of treatment is to correct vitamin D deficiency and to ensure adequate calcium intake.
Vitamin D deficient rickets can be prevented in many cases by ensuring that children and pregnant women have sufficient vitamin D and calcium intake.
Rickets refers to changes caused by deficient mineralisation at the growth plate of long bones. Osteomalacia refers to impaired mineralisation of the bone matrix. Rickets and osteomalacia usually occur together while the growth plates are open. Rickets only occurs in growing children before fusion of the epiphyses; osteomalacia can occur after the growth plates have fused.
Rickets can manifest in childhood at the distal forearm, knee, and costochondral joints, as these are sites of rapid bone growth, where large quantities of calcium and phosphorus are required for mineralisation. Characteristic features include widening of the bones at the wrists and knees, bowing of the legs, spine deformities, fractures, bone pain, and dental abnormalities.
History and exam
Key diagnostic factors
- presence of risk factors
Other diagnostic factors
- bone pain
- growth retardation
- delayed achievement of motor milestones
- bony deformities
- muscle weakness
- carpopedal spasm
- numbness or paresthesias
- hypocalcaemic seizures
- age 6 to 23 months
- inadequate sunlight exposure
- darker skin complexion
- calcium deficiency
- phosphate deficiency
- family history of rickets
- antacids, loop diuretics, corticosteroids, or anticonvulsants
1st investigations to order
- x-ray of a long bone
- serum calcium
- serum inorganic phosphorus
- serum parathyroid hormone level
- 25-hydroxyvitamin D levels (calcidiol)
- alkaline phosphatase and liver function tests
- serum creatinine and urea
- urinary calcium and phosphorus
Investigations to consider
- 1,25-dihydroxyvitamin D levels (calcitriol)
calcium-deficient rickets: vitamin D deficiency
calcium-deficient rickets: calcium deficiency
calcium-deficient rickets: pseudovitamin D deficiency
calcium-deficient rickets: vitamin D resistance
hypophosphataemic rickets: X-linked
hereditary hypophosphataemic rickets with hypercalciuria
hypophosphataemic rickets: tumour-induced
- Metaphyseal dysostoses
- Blount syndrome
- Clinical practice recommendations for the diagnosis and management of X-linked hypophosphataemia
- Prevention and treatment of vitamin D and calcium deficiency in children and adolescents
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