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Rickets: Causes, Symptoms and Treatment

Rickets is a bone development disorder in growing children caused by deficiency of vitamin D, calcium, or phosphate, leading to soft and deformed bones.

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Things worth knowing about "Rickets"

Rickets is a bone development disorder in growing children caused by deficiency of vitamin D, calcium, or phosphate, leading to soft and deformed bones.

What is Rickets?

Rickets is a skeletal disorder that primarily affects infants and young children. It occurs when the body does not have sufficient vitamin D, calcium, or phosphate to properly mineralize developing bones. Without adequate mineralization, bones become soft, weak, and prone to deformity. The most common form is nutritional rickets, caused by vitamin D deficiency.

Causes

Rickets can result from several different underlying factors:

Vitamin D deficiency: The most frequent cause. Vitamin D is mainly produced in the skin through exposure to sunlight. Children with limited sun exposure are at significantly higher risk.
Inadequate calcium intake: Insufficient dietary calcium can lead to calcium-deficiency rickets, particularly in regions where dairy products or other calcium-rich foods are scarce.
Malabsorption: Conditions such as celiac disease or inflammatory bowel disease can impair the intestinal absorption of vitamin D and calcium.
Genetic forms: Rare hereditary conditions such as X-linked hypophosphatemic rickets are caused by genetic defects affecting phosphate metabolism.
Kidney disease: Chronic kidney disease can impair the activation of vitamin D, leading to renal rickets.

Symptoms

The symptoms of rickets vary depending on the severity and the age of the child. Common signs include:

Bone pain and tenderness, particularly in the legs and spine
Muscle weakness and general fatigue
Delayed motor milestones such as late sitting or walking
Skeletal deformities: Bowed legs (genu varum) or knock knees (genu valgum), spinal curvature, widening of wrists and ankles
Rachitic rosary: Bead-like enlargements at the junction of ribs and cartilage
Soft skull (craniotabes) in infants
Delayed teething and enamel defects
Increased susceptibility to infections due to impaired immune function

Diagnosis

Rickets is typically diagnosed through a combination of clinical examination, laboratory tests, and imaging:

Blood tests: Measurement of 25-OH vitamin D, calcium, phosphate, alkaline phosphatase (elevated in rickets), and parathyroid hormone (PTH)
X-rays: Characteristic changes at the growth plates of long bones, including cupping, fraying, and widening
Urine tests: To assess urinary excretion of calcium and phosphate

Treatment

Treatment of rickets depends on the underlying cause:

Nutritional Rickets (Vitamin D Deficiency)

High-dose vitamin D supplementation (typically 2,000–6,000 IU per day for several months, based on current guidelines and the child's age)
Increased calcium intake through diet or supplementation
Regular outdoor activity to promote natural vitamin D synthesis through sun exposure

Genetic or Renal Rickets

Condition-specific therapy, for example phosphate supplementation and active vitamin D analogues (calcitriol) for X-linked hypophosphatemic rickets
Treatment of the underlying kidney disease in cases of renal rickets

Prevention

Health authorities including the World Health Organization (WHO) and national pediatric societies recommend daily vitamin D supplementation of 400–500 IU for all infants during the first year of life, regardless of feeding method (breastfeeding or formula).

References

Munns CF et al. - Global Consensus Recommendations on Prevention and Management of Nutritional Rickets. Journal of Clinical Endocrinology & Metabolism, 2016;101(2):394–415. PubMed PMID: 26745253.
World Health Organization (WHO): Vitamin D supplementation in infants and children. URL: https://www.who.int
Glorieux FH, Pettifor JM - Vitamin D/dietary calcium deficiency rickets and pseudo-vitamin D deficiency rickets. BoneKEy Reports, 2014;3:524. PubMed PMID: 24605208.

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