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The management of siblings with familial hypophosphatemic rickets
Insights
Early treatment with 1 alpha-hydroxycholecalciferol (1 alpha OHD3) and phosphate in infants with familial hypophosphatemic rickets promotes growth and bone healing. However, it does not normalize fasting serum phosphorus levels.
Area of Science:
- Pediatric Endocrinology
- Metabolic Bone Disease
- Genetics
Background:
- Familial hypophosphatemic rickets (FHR) is a genetic disorder affecting phosphate metabolism.
- Early diagnosis and intervention are crucial for managing FHR in infants.
Observation:
- Two siblings with FHR presented with abnormal serum phosphorus and alkaline phosphatase at six weeks of age.
- Treatment initiated with 1 alpha-hydroxycholecalciferol (1 alpha OHD3) and phosphate.
- Patients were monitored for growth, bone healing, and serum phosphorus levels.
Findings:
- Therapy resulted in normal growth and radiological healing of bone lesions in both siblings.
- Persistent low fasting serum phosphorus levels were observed despite treatment.
- No hypercalcemia developed during the treatment period.
Implications:
- Early 1 alpha OHD3 and phosphate administration in FHR infants prevents dwarfism.
- Treatment positively impacts intestinal phosphorus absorption but not fasting hypophosphatemia.
- Further research may be needed to address persistent hypophosphatemia in FHR.
Abstract:
Two siblings (boy and girl) born to a mother with familial hypophosphatemic rickets had abnormal values of serum phosphorus and serum alkaline phosphatase at the age of six weeks. At this age therapy with 1 alpha-hydroxycholecalciferol (1 alpha OHD3) and phosphate was started resulting in both siblings having normal growth of body length and radiological healing of the bone lesions but persistently low values of fasting serum phosphorus during the time of observation up to 60 and 26 months of age, respectively. Phosphate and 1 alpha OHD3 have a positive influence on serum phosphorus through their effect on the intestine. Neither of the patients developed hypercalcaemia during treatment. It seems, therefore, that the early administration of 1 alpha OHD3 with phosphate in infants with familial hypophosphatemic rickets prevents dwarfism and has a positive effect on intestinal absorption of phosphorus but not on fasting hypophosphatemia.