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Related Experiment Videos

Hypercalciuria in patients with CLCN5 mutations.

Michael Ludwig1, Boris Utsch, Bernd Balluch

  • 1Department of Clinical Biochemistry, University of Bonn, Sigmund-Freud-Str. 25, 53105, Bonn, Germany. mludwig@uni-bonn.de

Pediatric Nephrology (Berlin, Germany)
|June 30, 2006
PubMed
Summary

Hypercalciuria is not always present in Dent disease patients with CLCN5 mutations. Considering CLCN5 gene mutations is important even without hypercalciuria in patients with low molecular weight proteinuria.

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Area of Science:

  • Nephrology
  • Genetics
  • Molecular Biology

Background:

  • Dent disease is an X-linked tubulopathy characterized by low molecular weight proteinuria, nephrocalcinosis, renal failure, and often hypercalciuria.
  • Mutations in the CLCN5 gene are the primary cause of Dent disease.
  • Hypercalciuria's presence can influence the diagnostic consideration of CLCN5 mutations.

Purpose of the Study:

  • To determine the phenotypic spectrum of CLCN5 mutations.
  • To assess the frequency of hypercalciuria in patients with CLCN5 mutations.
  • To evaluate the diagnostic utility of hypercalciuria in identifying CLCN5-related Dent disease.

Main Methods:

  • Assessed renal calcium excretion in 34 male patients with confirmed CLCN5 mutations.
  • Defined hypercalciuria as renal calcium excretion >0.1 mmol/kg/day.

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  • Compared findings with a systematic literature review of CLCN5-positive patients.

    • Main Results:

    • Hypercalciuria was present in 71% of the studied patients (22/31).
    • Normal calcium excretion was observed in at least one male in 7 of 19 families.
    • Low molecular weight proteinuria was universal; 41% presented with only two major symptoms.

    Conclusions:

    • CLCN5 mutations should be suspected in patients with low molecular weight proteinuria and one additional Dent disease symptom, regardless of hypercalciuria status.
    • The absence of hypercalciuria does not rule out Dent disease caused by CLCN5 mutations.
    • Broadening diagnostic criteria improves detection of CLCN5-related tubulopathies.