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Inherited isolated hyperphosphatasemia.

K Kruse

    Acta Paediatrica Scandinavica
    |November 1, 1983
    PubMed
    Summary
    This summary is machine-generated.

    This study identifies a rare inherited condition causing persistently high bone alkaline phosphatase (AP) levels in a family. The genetic abnormality affects AP metabolism without causing other health issues.

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    Area of Science:

    • Biochemistry
    • Genetics
    • Pediatrics

    Background:

    • Familial hyperphosphatasemia is a rare inherited disorder.
    • It is characterized by elevated serum alkaline phosphatase (AP) activity.
    • The condition follows an autosomal dominant inheritance pattern.

    Observation:

    • An 11-year-old girl presented with persistently elevated serum AP activity, over four times the normal limit.
    • Family members, including her father and one sister, also showed elevated AP activity.
    • Physical and laboratory examinations were otherwise normal.

    Findings:

    • Isoenzyme analysis confirmed the elevation was primarily due to bone-specific alkaline phosphatase.
    • No metabolic disturbances in calcium or phosphate were detected.

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  • Skeletal morphology remained normal, ruling out bone disease.

    • Implications:

    • This case highlights an inherited abnormality in bone alkaline phosphatase metabolism.
    • It suggests a genetic basis for elevated AP activity independent of liver or bone disease.
    • Further research into the genetic regulation of alkaline phosphatase is warranted.