Table 7.
Recommended evaluations for patients with X-linked hypophosphatemiaa
| Evaluation | Frequency | |||
|---|---|---|---|---|
| Every 1-3 mo | Every 3-6 mo | Every 6-12 mo | Other or as indicated | |
| Laboratory values | ||||
| Serum calcium, iPTH, creatinine, ALP, fasting serum phosphorus | Age < 5 y | Age 5-18 y | Adults | |
| Urine creatinine:calcium | All patients on any treatment | |||
| 25 OH vitamin D | Annually (all patients) | |||
| Anthropometric evaluations | ||||
| Height, weight, intermalleolar distance, and intercondylar distance | Age 5-18 y | Adults | Every 1-3 mo (age < 5 y) | |
| Radiologic assessments | ||||
| X-rays of lower extremities and wrists to assess extent of skeletal disease | 6 mo after therapy initiation; otherwise, every 1-2 y (pediatric) | |||
| Bone age measurement to evaluate growth potential | Every 1-2 y (pediatric with short stature) | |||
| X-rays of lower limbs to assess for fractures, pseudofractures, or enthesopathyb | At baseline and as clinically needed (adolescent and adult) | |||
| Other | ||||
| Blood pressure | Every 6 mo (all patients) | |||
| Renal ultrasonography | Every 1-2 y (treated patients) | |||
| Orthopedic | Annually (symptomatic patients) | |||
| Craniofacial examination for signs of craniosynostosis | Annually (age < 5 y) | |||
| Chiari malformation | Patients with clinical symptoms (eg, headache or vertigo) | |||
| Neurologic | Patients with clinical symptoms (eg, headache or papilledema) | |||
| Dental | Every 6 mo (all patients) | |||
| Hearing | As needed (age > 8 y) | |||
| Physical therapy | Annually | |||
| Quality of life | Every 1-2 y | |||
| Clinical genetics and/or genetics counseling | At diagnosis, during transition to adult care, and during family planning | |||
Abbreviations: ALP, alkaline phosphatase; iPTH, intact parathyroid hormone.
aSome recommendations are reflected in Haffner et al [32], whereas others are solely the recommendations of the authors of this review.