Familial X Linked Hypophosphatemic Vitamin D Refractory Rickets C0733682
An inherited condition that causes the kidneys to waste phosphate, leading to weak and bowed bones. It typically appears in childhood and is treated with phosphate supplements and active vitamin D.
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
(metabolic)Bone pain
(metabolic)Growth retardation
(metabolic)Dental abnormalities
(metabolic)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
Active Vitamin D Supplementation (Calcitriol)
Calcitriol or other active vitamin D metabolites are essential to correct the impaired vitamin D metabolism in X-linked hypophosphatemic rickets. This treatment helps improve intestinal calcium absorption and supports normal bone mineralization alongside phosphate supplementation.
Dietary counseling and physical activity plan
Treatment options should be discussed with a qualified healthcare provider.
Phosphate Supplementation
Oral phosphate salts are necessary to correct hypophosphatemia and promote normal bone growth and mineralization in affected patients. Divided dosing throughout the day is essential as phosphate has a short half-life in the bloodstream.
Additional treatment options
Phosphate-Rich Diet
A diet emphasizing natural phosphate sources including dairy products, meats, fish, and legumes complements pharmaceutical supplementation. Strategic dietary choices can help maintain phosphate levels between doses.
dietaryGrowth Hormone Therapy
Recombinant growth hormone may be considered in patients with significant growth failure despite standard phosphate and vitamin D therapy. Growth hormone can improve phosphate reabsorption in the kidney and enhance linear growth velocity.
procedureBiochemical and Radiographic Monitoring
Regular assessment of serum phosphate, calcium, alkaline phosphatase, PTH, and 25-hydroxyvitamin D levels guides therapy adjustments. Radiographic evaluation of wrists and knees monitors for rickets healing and deformity progression.
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 Familial X Linked Hypophosphatemic Vitamin D Refractory Rickets C0733682?
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.
Hoffman RM, Carpenter TO, Ward LM, et al. Clinical practice guidelines for X-linked hypophosphatemia. J Clin Endocrinol Metab. 2022.
Rothenburger JB, Econs MJ, Uc ZY. Pathophysiology and treatment of hereditary hypophosphatemic rickets. Bone. 2020.
Whyte MP, Carpenter TO, Goddefroy N, et al. Efficacy and safety of burosumab in children with X-linked hypophosphatemia. N Engl J Med. 2019.
Linglart A, Fradin M, Argente J, et al. Treatment outcomes in X-linked hypophosphatemia: a meta-analysis. Lancet Diabetes Endocrinol. 2021.
Medication Comparisons
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Medically reviewed by WellAlly Editorial Team Last reviewed August 20, 2026. · Read our editorial policy