MANAGEMENT OF X-LINKED HYPOPHOSPHATEMIC RICKETS
A. Life-long therapy
1.
Phosphate (P04) solution 75 mg/kg/day 4-5
times a day (maximum 2 g) 15 ml = 10 mmol =300 mg
2. Calcitriol
40 ng/kg OM X 3 months then 20 ng/kg (maximum 1 mcg) or Alfacalcidol
100 ng/kg OM X 3 months then 50 ng/kg (maximum 2 mcg)
B. Follow-up and Monitoring
1.
Six-weekly till biochemical parameters are
stable (approximately 3 months) then 3- monthly subsequently.
2. Every
visit:
a. Parameters
to be monitored:
·
Height (stadiometer)
·
Head circumference
·
Inter-condylar and inter-malleolar distances
·
Flaring of wrists, ankles, costochondral
junction
· Blood urea, creatinine, sodium, potassium,
chloride, bicarbonate, calcium, phosphate, uric acid
b. Aim for:
·
Serum calcium >2.35 mmol/L
·
Serum phosphate >1 mmol/L
·
Serum alkaline phosphatase <500 U/L
·
Urinary calclum : creatinine <0.6
3. Six-monthly:
• iPTH (Aim for <10 pmol/L)
• Urine oxalate : creatinine ratio (Aim for
<0.268 mmol/mmol) If high refer to dietician
• Renal ultrasound (for nephrocalcinosis)
0- Normal
1 - Faint hyperechogenic rim around medullary pyramids
2 - More Intense rim with echoes faintly filling entire pyramid
3 - Uniformly intense echoes throughout pyramids
4 - Stone formation: solitary
focus of echoes at the tip of the pyramid with acoustic shadowing)
4. Yearly:
• Knee X-rays
• Orthopedic review
• Dental review
• 24 hour urinary protein
excretion and creatinine clearance if there is nephrocalcinosis
• Bone densitometry (also at diagnosis)
C. Screening of siblings: Initially at 3 months of age, then at
6 months of age
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