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Early biochemical findings in familial hypophosphataemic, hyperphosphaturic rickets and response to treatment
Insights
Early treatment with oral phosphate and 1-alpha-hydroxy-cholecalciferol effectively healed familial hypophosphataemic rickets in infants. While most infants showed normal growth, one required longer treatment for growth below the 3rd centile.
Area of Science:
- Pediatric Endocrinology
- Biochemistry
- Genetics
Background:
- Familial hypophosphataemic, hyperphosphaturic rickets is a genetic disorder affecting phosphate metabolism.
- Early biochemical and radiological signs of rickets can vary significantly in onset and severity among affected infants.
Purpose of the Study:
- To investigate the early biochemical and clinical manifestations of familial hypophosphataemic, hyperphosphaturic rickets in infants.
- To evaluate the efficacy of oral phosphate and 1-alpha-hydroxy-cholecalciferol treatment on rickets healing and linear growth.
Main Methods:
- Longitudinal monitoring of biochemical markers (phosphate, alkaline phosphatase) in four infants with familial hypophosphataemic rickets.
- Radiographic assessment for rickets.
- Treatment with oral phosphate and 1-alpha-hydroxy-cholecalciferol, with subsequent monitoring of healing and growth.
Main Results:
- Hypophosphataemia and elevated alkaline phosphatase were observed early (by 2-3 months).
- Decreased phosphate tubular reabsorption and radiographic rickets appeared later (3-9 months) in most infants.
- Successful healing of rickets and normal linear growth were achieved in three infants; the fourth showed delayed healing and growth below the 3rd centile.
- Hypercalcaemia was not a significant issue during treatment.
Conclusions:
- Familial hypophosphataemic rickets presents with variable onset of biochemical and radiological abnormalities.
- Combined oral phosphate and 1-alpha-hydroxy-cholecalciferol therapy is effective for healing rickets and promoting growth, though individual responses may vary.
- Close monitoring is essential to ensure adequate linear growth and manage treatment outcomes.
Abstract:
Regular biochemical measurements were made in 4 babies, each of whom had one parent with familial hypophosphataemic, hyperphosphaturic rickets. Hypophosphataemia developed by 2 months and levels of alkaline phosphatase had increased by 3 months in all four. Decreased tubular reabsorption of phosphate and x-ray changes of rickets did not develop until 6 months in 3 of the babies. In the fourth these abnormalities developed at 9 days and 3 months. The babies were treated with oral phosphate and small doses of 1-alpha-hydroxy-cholecalciferol. The rickets healed readily in 3 babies and their linear growth kis within the normal range. Healing took much longer in the remaining child and his linear growth is below the 3rd centile. Hypercalcaemia has not been a problem of treatment.