Primary care
Recommendation 1
Medication management and supportive therapy
Familial Hypophosphatemia
Not yet reviewedThis information is AI generated and has not yet been reviewed by a specialist physician. AI can make mistakes.
Disease overview
Group of rare X-linked dominant disorders characterized by impaired kidney conservation of phosphate and in some cases, altered vitamin D metabolism
Common symptoms
Dolichocephalyscaphocephalycraniosynostosisgenu varusensorineural hearing lossspinal stenosispaincaries
When to suspect
Recommendation 1
Biochemical testing of blood and urine reveal a low serum phosphate level in the setting of normal serum calcium and 25-hydroxyvitamin D levels
How to test
Recommendation 1
Biochemical testing of blood and urine reveal a low serum phosphate level in the setting of normal serum calcium and 25-hydroxyvitamin D levels
ZebraMD is partnering with Ambry Genetics for clinical-grade whole genome testing for rare diseases. Ambry accepts insurance. If you don’t have a physician to order this test, join our referral list and our team will reach out.
Treatment
Recommendation 1
Oral phosphate salts and activated forms of vitamin D such as calcitriol and burosumab (Crysvita)
Further support
Recommendation 1
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
Clinical Trials
Sources
No data available
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