Table 5.

X-Linked Hypophosphatemia: Recommended Evaluations Following Initial Diagnosis

System/ConcernEvaluationComment
Endocrine
  • Serum & urine calcium & phosphate
  • PTH, 25-hydroxyvitamin D, creatinine, & alkaline phosphatase (total or bone specific)
Skeletal
  • Assess growth.
  • Lower extremity radiograph (teleroentgenogram) & radiograph of the wrists to assess extent of skeletal disease
  • Consider bone age radiograph to evaluate growth potential.
  • Craniofacial exam for manifestations of craniosynostosis
In those diagnosed in childhood
  • Clinical assessment of joint mobility & pain
  • Skeletal radiograph survey, esp of skeletal sites w/reported pain or restricted mobility, to assess for joint calcifications &/or insufficiency or pseudofractures
In those diagnosed in adulthood
Neurologic Eval of those w/headache, vertigo, or other neurologic symptoms for Chiari I malformation
Dental Dental exam
Hearing Hearing evalIf hearing loss is clinically suspected
Renal Renal ultrasound
Genetic counseling By genetics professionals 1To inform affected persons & families re nature, MOI, & implications of XLH to facilitate medical & personal decision making
Psychosocial Assess for psychological & social support needs.

MOI = mode of inheritance; PTH = parathyroid hormone; XLH = X-linked hypophosphatemia

1.

Medical geneticist, certified genetic counselor, certified advanced genetic nurse

From: X-Linked Hypophosphatemia

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