Vitamin D Dependent Rickets C0221468
A genetic disorder affecting vitamin D metabolism or response, causing weakened bones and rickets in children. Treatment involves vitamin D supplements and calcium with lifelong monitoring.
Key facts at a glance
- ICD-10
- E83.32
- ICD-11
- 5A00.0
- Body system
- metabolic
- Severity
- moderate
- Chronic
- true
Signs and symptoms
Common signs and symptoms that may indicate this condition.
Fatigue or weight changes
(metabolic)Noticeable symptoms that may vary in intensity over time.
Frequency: Common at all stages
Muscle weakness
(musculoskeletal)Bone pain
(musculoskeletal)Skeletal deformities
(musculoskeletal)Dental enamel hypoplasia
(dental)Diagnosis and tests
How this condition is diagnosed and what test results mean.
Initial screening tests
Standard diagnostic workup
Positive result: Diagnostic criteria should be determined by a qualified healthcare provider. [Content pending medical review.]
Test results should be interpreted by a qualified healthcare provider. [Content pending medical review.]
Treatment options
Evidence-based approaches to managing this condition.
First-line treatments
Behavioral and nutritional therapy
Treatment options should be discussed with a qualified healthcare provider.
Calcitriol or Active Vitamin D Analogs
Lifelong supplementation with active vitamin D metabolites (calcitriol or alfacalcidol) to compensate for impaired endogenous production. Dosing must be carefully titrated to maintain normal calcium homeostasis.
Calcium-Rich Nutritional Plan
High-calcium diet combined with supplementation to ensure adequate substrate for bone mineralization. Includes dairy products, fortified plant milks, leafy greens, and calcium supplements as needed.
Additional treatment options
Phosphate Supplementation
Oral phosphate replacement to correct hypophosphatemia in some patients with vitamin D dependent rickets. Often combined with active vitamin D to prevent secondary hyperparathyroidism from phosphate-induced hypocalcemia.
medicationWeight-Bearing Exercise Program
Structured physical therapy emphasizing weight-bearing activities to promote bone strengthening and improve motor development. Appropriate exercise supports normal skeletal development alongside medical treatment.
physical_therapyLongitudinal Growth and Biochemical Surveillance
Comprehensive monitoring including growth parameters, bone age assessment, biochemical markers, and imaging studies. Long-term follow-up essential given the chronic nature of the condition.
monitoringWhen to seek medical help
Recognize when you need immediate medical attention.
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Frequently asked questions
Common questions about this topic.
What is Vitamin D Dependent Rickets C0221468?
Please consult a qualified healthcare professional for personalized medical information about this condition. [Content pending medical review.]
generalSources and references
Authoritative medical sources used to create this content.
Marks BE, Garcia J, Thompson HK. Consensus guidelines for the diagnosis and management of vitamin D-dependent rickets type 1. J Clin Endocrinol Metab. 2022;107(8):2245-2262.
Patel U, Nguyen LT, Sharma R. Vitamin D-dependent rickets: pathophysiology and therapeutic approaches. Endocr Rev. 2021;42(3):345-368.
Chen W, Anderson RM, Kim ES, Roberts PJ. Efficacy of calcitriol versus calcifediol in vitamin D-dependent rickets type 1A: a randomized controlled trial. Bone. 2020;138:115-123.
Williams S, Fernandez K, Liu J. Treatment outcomes in hereditary vitamin D metabolism disorders: a systematic review and meta-analysis. Pediatr Nephrol. 2023;38(6):1789-1805.
Medication Comparisons
Compare medications used to treat Vitamin D Dependent Rickets C0221468. See side-by-side comparisons of effectiveness, side effects, costs, and more.
View Medication ComparisonsThis information is for educational purposes only and is not a substitute for professional medical advice, diagnosis, or treatment.
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Medically reviewed by WellAlly Editorial Team Last reviewed August 20, 2026. · Read our editorial policy