Current Practices in Monitoring Children and Adults with X-linked Hypophosphatemia: A Global Survey of Expert Experience.
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This report provides recommendations for XLH monitoring based on current monitoring practices of experts in the management of XLH in children (<18 years) and adults. We surveyed 43 experts to determine their monitoring practices for children and adults with XLH, including pregnant and lactating women. In the initial evaluation of children and adults with XLH, experts consistently obtain family history, fracture history and history of dental infections. They measure height, weight, blood pressure and conduct DNA analysis of multiple genes including the PHEX gene. For children follow-up, experts arrange follow-up every 3-6 months assessing height, weight, blood pressure and examining for skeletal deformities. Laboratory tests for children include serum phosphorus, corrected total/ionized calcium, alkaline phosphatase, renal function, parathyroid hormone and spot morning urine for calcium, creatinine and phosphorus. For adult follow-up, experts assess patients every 6-12-months including a clinical examination for skeletal deformities and joint involvment. The laboratory profile is completed at least once a year. In the presence of bone pain, experts conduct X-rays both in children and adults to evaluate for fractures or joint damage. With respect to nephrocalcinosis, renal ultrasound is suggested on an annual basis or less frequently when monitoring children and adults with XLH. Experts conduct a dental assessment at baseline and then every 6-12 months for all patients with XLH. The findings of the survey inform practice for assessing new patients with XLH, monitoring existing patients and identifying areas for future research. All recommendations based on these practices are weak with very low-quality evidence.
