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Familial idiopathic hypercalciuria

F L Coe, J H Parks, E S Moore

    The New England Journal of Medicine
    |February 15, 1979
    PubMed
    Summary
    This summary is machine-generated.

    Idiopathic hypercalciuria, a cause of kidney stones, runs in families. This condition appears to be inherited as an autosomal dominant trait, affecting first-degree relatives most frequently.

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    Area of Science:

    • Nephrology
    • Medical Genetics

    Background:

    • Idiopathic hypercalciuria is a common metabolic disorder.
    • Recurrent calcium oxalate renal stones are a significant clinical manifestation.

    Purpose of the Study:

    • To investigate the familial occurrence of idiopathic hypercalciuria.
    • To determine the mode of inheritance for this condition.

    Main Methods:

    • Family studies were conducted on nine probands with idiopathic hypercalciuria.
    • Hypercalciuria and renal stone history were assessed in 73 relatives across multiple generations.

    Main Results:

    • Idiopathic hypercalciuria was found in 26 of 73 relatives (35.6%).
    • The condition was observed in three generations in two families and two generations in four families.

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  • Nineteen of 44 first-degree relatives (43.2%) had idiopathic hypercalciuria, compared to 7 of 29 other relatives (24.1%).
  • Renal stones occurred in 19 of 44 first-degree relatives (43.2%).

    • Conclusions:

    • A familial form of idiopathic hypercalciuria exists.
    • The trait appears to be transmitted as an autosomal dominant characteristic.
    • Stone disease is prevalent in first-degree relatives and affects both sexes equally.