Abstract

To test the role of a possible lysosomal defect in the pathogenesis of congenital osteopetrosis, lysosomal morphology and function were investigated in two neonates with the disease. Simultaneously, calcitonin and parathyroid hormone action were studied in the context of a complete mineral balance study. Plasma calcitonin and parathyroid hormone levels were found to be normal, and a target organ response to parathyroid hormone could be demonstrated for the kidney. The presented data suggest that impaired bone resorption in congenital osteopetrosis involves a shift in lysosomal acid phosphatases toward those relatively insensitive to parathyroid hormone.

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