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Idiopathic infantile hypercalcemia discovered in the newborn period
H Shimizu1, S Kodama, A Takeuchi
1Department of Pediatrics, Himeji Red Cross Hospital, Japan.
Insights
Idiopathic infantile hypercalcemia (IIH) in a newborn was treated effectively with calcitonin, reducing high serum 1,25-dihydroxyvitamin D3 levels. This suggests elevated 1,25(OH)2D3 contributes to IIH pathogenesis.
Area of Science:
- Pediatric Endocrinology
- Nephrology
- Genetics
Background:
- Idiopathic infantile hypercalcemia (IIH) presents with hypercalcemia, hypercalciuria, distinctive facial features, and nephrocalcinosis.
- The exact pathogenesis of IIH, particularly the source of elevated 1,25-dihydroxyvitamin D3 (1,25[OH]2D3), remains unclear.
Observation:
- A male newborn with typical IIH signs was managed without Vitamin D3 supplementation.
- Treatment involved a vitamin D-free, low-calcium diet and rectal calcitonin (elcatonin).
Findings:
- Rectal calcitonin demonstrated significant efficacy in managing IIH symptoms.
- Serum calcium normalized, and serum 1,25(OH)2D3 levels decreased from 101.5 to 75.6 pg/mL following treatment.
Implications:
- High serum 1,25(OH)2D3 concentration appears to be a key factor in the pathogenesis of IIH.
- Further research is needed to elucidate the mechanisms driving elevated 1,25(OH)2D3 in IIH.
Abstract:
We report a male newborn with typical clinical signs of idiopathic infantile hypercalcemia (IIH); that is, hypercalcemia, hypercalciuria, an elfin face and nephrocalcinosis without giving Vitamin D3 supplementation to the patient. He had been treated with a vitamin D-free, low calcium milk and rectal administration of exogenous calcitonin (elcatonin). The latter seemed to be more effective as a treatment for IIH. The serum calcium level came within the normal range and the serum 1,25-dihydroxyvitamin D3 (1,25[OH]2D3) level decreased from 101.5 to 75.6 pg/mL with the treatments mentioned above. These results suggest that a high serum concentration of 1,25(OH)2D3 is part of the pathogenesis of IIH. However, we were not able to clarify the pathogenesis of the high serum concentration of 1,25(OH)2D3.