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Related Experiment Videos

Persistent isolated hyperphosphatasemia.

J M Lewis

    Southern Medical Journal
    |June 1, 1987
    PubMed
    Summary
    This summary is machine-generated.

    Persistent isolated hyperphosphatasemia is a rare genetic disorder characterized by elevated serum alkaline phosphatase levels. This condition often presents in childhood and can run in families, distinct from transient forms.

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    Area of Science:

    • Biochemistry
    • Genetics
    • Pediatrics

    Background:

    • Persistent isolated hyperphosphatasemia is a rare disorder.
    • It is characterized by elevated serum alkaline phosphatase (SAP) levels without other signs of bone or liver disease.

    Observation:

    • A case study of a 7-year-old girl with a two-year history of elevated SAP levels is presented.
    • Family investigations revealed mild SAP elevations in her parents.
    • Eight prior families with this condition have been documented.

    Findings:

    • Persistent isolated hyperphosphatasemia is typically detected after age 5.
    • The elevation in SAP levels lasts longer than one year.
    • The bone isoenzyme of alkaline phosphatase is elevated, and the condition frequently has a familial incidence.

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    Implications:

    • This case adds to the understanding of persistent isolated hyperphosphatasemia.
    • Distinguishing this disorder from transient forms is crucial for accurate diagnosis and management.
    • Further research into the genetic basis and long-term outcomes is warranted.