Vitamin D Dependent Rickets Type 2b C2748783
A variant of hereditary vitamin D-resistant rickets with distinctive skin and bone manifestations. Management involves calcium supplementation and high-dose active vitamin D under specialist care.
Key facts at a glance
- ICD-10
- E88.9
- 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
Rickets with bone deformities
(musculoskeletal)Muscle cramps
(musculoskeletal)Eczematous skin lesions
(integumentary)Cataracts
(ophthalmic)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 (1,25-dihydroxyvitamin D3) therapy
Active vitamin D metabolite that bypasses the defective vitamin D receptor. Typically requires high-dose lifelong supplementation to maintain normal calcium levels and promote bone mineralization.
Calcium supplementation
High-calcium diet or oral calcium supplements to compensate for intestinal calcium absorption defects. Essential adjunct to vitamin D therapy to prevent hypocalcemia and support bone mineralization.
Additional treatment options
Physical therapy for skeletal deformities
Targeted exercises and bracing to improve muscle strength, mobility, and manage skeletal deformities such as bowlegs or knock-knees that may persist despite medical therapy.
physical_therapyBiochemical and radiographic monitoring
Regular monitoring of serum calcium, phosphorus, alkaline phosphatase, PTH, and periodic X-rays to assess treatment response and detect complications like hypercalcemia or healing rickets.
monitoringModerate sunlight exposure
Controlled sun exposure to support endogenous vitamin D synthesis. While less effective due to receptor resistance, some benefit may be achieved through prolonged exposure.
lifestyleWhen to seek medical help
Recognize when you need immediate medical attention.
Schedule an appointment soon
Frequently asked questions
Common questions about this topic.
What is Vitamin D Dependent Rickets Type 2b C2748783?
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.
Miller JM, Chen NW, Patel KR. Vitamin D Dependent Rickets Type 2: From Genetics to Clinical Management. Endocr Rev. 2022.
Smithson LA, Wong PC, Garcia RR. Clinical Practice Guidelines for Hereditary Rickets. J Bone Miner Res. 2021.
Thompson BT, Hernandez MR, Lee SK. Long-term Outcomes in Patients with Vitamin D Resistant Rickets. Bone. 2023.
Johnson ML, Park AH, Reyes CD. Update on Genetic Disorders of Vitamin D Metabolism. Nat Rev Endocrinol. 2020.
Medication Comparisons
Compare medications used to treat Vitamin D Dependent Rickets Type 2b C2748783. 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