Current Practices in Monitoring Children and Adults With X-linked Hypophosphatemia: A Global Survey of Expert Experience
Methodological detailsglobal expert survey, international expert survey
- Global expert survey
- International expert survey
Recommendations
As issued by the authors
- weak, very low-quality evidence
Initial evaluation: family history of X-linked hypophosphatemia (XLH) or hypophosphatemia, history of fractures and dental infections, pain assessment; height, weight, blood pressure; DNA analysis of multiple hypophosphatemia genes including PHEX
- weak, very low-quality evidence
Children: follow-up every 3 to 6 months (height, weight, blood pressure, skeletal deformities); labs: serum phosphorus, corrected total/ionized calcium, alkaline phosphatase, renal function, PTH; spot morning urine calcium, creatinine, phosphorus
- weak, very low-quality evidence
Adults: assessment every 6 to 12 months, clinical examination focused on skeletal deformities and joint involvement; laboratory profile at least once a year
- weak, very low-quality evidence
X-rays in children and adults with bone pain to evaluate fractures or joint damage
- weak, very low-quality evidence
Renal US for nephrocalcinosis annually or less frequently
- weak, very low-quality evidence
Dental assessment at baseline, then every 6 to 12 months for all patients
Original publication
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