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Infantile hypophosphatasia: treatment options to control hypercalcemia, hypercalciuria, and chronic bone
J P Barcia1, C F Strife, C B Langman
1Department of Pediatrics, Children's Hospital Medical Center, Cincinnati, Ohio.
Insights
Infantile hypophosphatasia in a 2-month-old infant caused hypercalcemia and bone issues. Calcitonin treated hypercalcemia, while chlorothiazide addressed hypercalciuria and bone demineralization, suggesting chlorothiazide may improve mineralization.
Area of Science:
- Pediatric Endocrinology
- Metabolic Bone Disease
- Mineral Metabolism
Background:
- Infantile hypophosphatasia is a severe genetic disorder characterized by impaired bone mineralization.
- Affected infants often present with skeletal abnormalities, hypercalcemia, and nephrocalcinosis.
- The underlying mechanism of hypercalcemia in this condition is not fully understood but may involve normal bone resorption with defective mineralization.
Observation:
- A 2-month-old infant diagnosed with infantile hypophosphatasia exhibited significant hypercalcemia (3.49 mmol/L), nephrocalcinosis, and reduced bone mineral content.
- The patient's clinical presentation included symptoms consistent with severe rickets and impaired skeletal development.
Findings:
- Treatment with calcitonin effectively corrected the hypercalcemia.
- Administration of chlorothiazide led to the abatement of hypercalciuria and bone demineralization.
- These findings suggest a potential role for chlorothiazide in managing the mineral imbalances and skeletal defects associated with infantile hypophosphatasia.
Implications:
- Hypercalcemia in infantile hypophosphatasia may stem from a combination of normal bone resorption and impaired mineralization.
- Chlorothiazide demonstrates therapeutic potential in addressing both hypercalciuria and bone demineralization in this condition.
- Further research is warranted to elucidate the precise mechanisms by which chlorothiazide influences bone mineralization and mineral homeostasis in infantile hypophosphatasia.
Abstract:
A 2-month-old child with infantile hypophosphatasia had hypercalcemia (3.49 mmol/L (14 mg/dl)), nephrocalcinosis, and diminished bone mineral content. Hypercalcemia was corrected with calcitonin. Hypercalciuria and bone demineralization abated with chlorothiazide. Hypercalcemia is hypothesized to be related to normal bone resorption in conjunction with impaired bone mineralization. Chlorothiazide may alleviate this impairment.