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| Disease found: | Familial Hypophosphatemia |
| Current as of: | October 8, 2024 |
| Disease Overview: | Group of rare X-linked dominant disorders characterized by impaired kidney conservation of phosphate and in some cases, altered vitamin D metabolism [more info] |
| Signs and Symptoms: | Dolichocephaly, scaphocephaly, craniosynostosis, genu varu, sensorineural hearing loss, spinal stenosis, pain, caries [more info] |
| Diagnosis: | Biochemical testing of blood and urine reveal a low serum phosphate level in the setting of normal serum calcium and 25-hydroxyvitamin D levels [more info] |
| Treatment: | Oral phosphate salts and activated forms of vitamin D such as calcitriol and burosumab (Crysvita) [more info] |
| Clinical Management: | Medication management and supportive therapy [more info] |
| Referral: | No specific physicians specialize in this condition but NORD recommends various rare disease clinics. Referral to Medical Genetics Department, if available. Initial virtual care is also available through organizations like TeleRare Health. |
| Clinical Trials: | Various clinical trails still recruiting |