Treatment of Rickets in Pediatric Patients
Treat nutritional rickets with vitamin D supplementation (400-2000 IU daily depending on age and severity) plus ensuring adequate calcium intake, while genetic and renal forms require specific therapies based on the underlying pathophysiology. 1, 2
Nutritional Rickets (Most Common Form)
Prevention and Treatment Strategy
All infants should receive at least 400 IU/day of vitamin D during the first year of life to prevent nutritional rickets, regardless of feeding method 1
Breastfed infants are at highest risk and require vitamin D supplementation beginning in the first two months of life, as breast milk alone does not provide adequate vitamin D 3
Treatment goals include achieving serum 25-hydroxyvitamin D levels of at least 20 ng/mL (Institute of Medicine recommendation), though the Endocrine Society recommends 30-40 ng/mL for optimal bone health 2
Ensure adequate dietary calcium intake concurrently with vitamin D supplementation, as both are essential for bone mineralization 1, 3
High-Risk Populations Requiring Monitoring
Dark-skinned children with limited sun exposure are at increased risk and require proactive supplementation 3
Children with malabsorption syndromes, chronic kidney disease, or taking certain medications need higher doses and closer monitoring 3, 4
Pregnant women should take 1500-2000 IU daily to prevent rickets in their offspring, as 600 IU is insufficient to maintain adequate 25-hydroxyvitamin D levels 2
Lactating mothers can take approximately 6400 IU daily to provide sufficient vitamin D through breast milk to satisfy infant requirements 2
Genetic and Metabolic Forms of Rickets
Vitamin D-Dependent Rickets
Type I (1-alpha-hydroxylase deficiency) requires treatment with active vitamin D (calcitriol), not native vitamin D supplementation 3, 4
Type II (vitamin D receptor defects) is more challenging to manage and may require extremely high doses of active vitamin D 3
Hypophosphatemic Rickets (Phosphopenic)
X-linked hypophosphatemia (XLH) should now be treated with burosumab, a fully humanized FGF23-antibody, which is superior to conventional therapy and approved for children 1 year and older 5, 4
Conventional treatment for FGF23-mediated hypophosphatemic rickets consists of frequent oral phosphate salts combined with active vitamin D, though this is now second-line 4
FGF23-independent hypophosphatemic rickets (hereditary hypophosphatemic rickets with hypercalciuria) requires phosphate supplementation alone, without active vitamin D, as these patients have excessive 1,25-dihydroxyvitamin D production 3, 4
Tumor-induced osteomalacia should be treated with tumor resection when possible, as this is curative 4
Renal Rickets and Fanconi Syndrome
Renal rickets requires activated vitamin D with or without phosphate supplements depending on kidney function 5, 4
Fanconi syndrome-associated rickets (cystinosis, Dent disease) requires disease-specific treatment in addition to phosphate and active vitamin D supplementation 4
Monitoring During Treatment
Monitor growth, degree of leg bowing, bone pain, and biochemical markers including serum phosphate, calcium, alkaline phosphatase (surrogate for osteoblast activity), parathyroid hormone, 25-hydroxyvitamin D, and urinary calcium 4
Watch for treatment-associated complications including diarrhea, gastrointestinal discomfort, hypercalciuria, secondary hyperparathyroidism, nephrocalcinosis, and nephrolithiasis 4
Critical Diagnostic Pitfall
Rickets is clinically underdiagnosed because infantile rickets often presents with subtle skeletal abnormalities detectable only radiologically, and some radiologic features can be misinterpreted as fractures 2
Diagnosis is established through history, physical examination, radiographic findings, and biochemical testing to classify rickets as calcipenic versus phosphopenic, which determines treatment approach 5, 3