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Hypophosphatasia-study on two autopsy cases.

M Harada, K Misugi

    Acta Pathologica Japonica
    |September 1, 1975
    PubMed
    Summary
    This summary is machine-generated.

    Autopsy studies reveal decreased alkaline phosphatase in infantile hypophosphatasia, except in the intestines. Nephrocalcinosis is linked to hypercalcemia, and parathyroid hormone levels were unexpectedly high.

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    Area of Science:

    • Pediatric Pathology
    • Biochemistry
    • Genetics

    Background:

    • Infantile hypophosphatasia is a severe genetic disorder characterized by defective bone mineralization.
    • Alkaline phosphatase deficiency is a hallmark of this condition, impacting various tissues.

    Observation:

    • Autopsy findings from two infantile hypophosphatasia cases were compared with 16 prior reports.
    • Histochemical and biochemical analyses showed significantly reduced alkaline phosphatase activity in liver, kidney, and bone tissues.
    • Intestinal alkaline phosphatase activity was normal or elevated, contrasting with systemic findings.

    Findings:

    • Nephrocalcinosis frequently complicates infantile hypophosphatasia, with its development influenced by hypercalcemia and patient survival duration.
    • Electron microscopy provided insights into the pathogenesis of nephrocalcinosis.

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  • Marked elevations in parathyroid hormone were detected for the first time in these cases, presenting an enigmatic finding.

    • Implications:

    • The distinct intestinal alkaline phosphatase activity warrants further investigation into its role.
    • Understanding the mechanism of nephrocalcinosis can guide clinical management strategies.
    • The elevated parathyroid hormone and parathyroid gland localization challenges suggest new avenues for research in hypophosphatasia pathophysiology.