The clinical data of 27 patiets with hypophosphatemic rickets treated with phosphate and 1α-hydroxyvitamin D were analysed retrospectively. The median age at diagnosis was 4 years, and the main clinical manifestations were bowleg and short
stature.
Among total 24 families, 5 families (21%) had X-linked dominant mode of inheritance, 1 family (4%) had autosomal dominant mode and 17 families (71%) had no family history, The serum phosphorus concentration rose from initial value of
2.7±0.13mg/dl
to
3.5±0.19mg/dl. The serum alkaline phosphatase was reduced from 871±63IU/L to 393±41IU/L. Healing of rickets was demonstrated by radiography. Patients treated for at least two years before the onset of puberty had an increase in the mean height
SD
score from -1.58 to -0.79. Orthopedic surgeries for severe lower extremity deformity were performed in 11 patients, of whom 8(73%) were dignosed over 5 years of age. Complications of therapy were as follows; 12 patients (44%) developed more than
one
episode of hypercalciuria, 5 patients (19%) developed more than one episode of hypercalcemia, and nephrocalcinosis was noted in 5(33%) out of 15 patients by renal ultrasound. The group with nephrocalcinosis had a higher incidence of hypercalemic
episodes than the group without nephrocalcinosis.
In conclusion, treatment of hypophosphatemic rickets results in healing of rickets and acceleration of growth, and we must evaluate complications of therapy such as hypercalcemia and nephrocalcinosis.
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