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The Site and Type of

Muhammad G Arnous1, Jennifer Arroyo1, Andrea G Cogal1

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Summary
This summary is machine-generated.

Dent disease 1 (DD1) kidney disease risk, including kidney stones and failure, may depend on the CLCN5 gene variant type. Truncating variants correlate with earlier stone events and higher albuminuria, impacting chronic kidney disease progression.

Keywords:
CKDDent diseasehypercalciurianephrocalcinosisproteinuria

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Area of Science:

  • Nephrology
  • Genetics
  • Molecular Biology

Background:

  • Dent disease is an X-linked disorder causing proteinuria, nephrocalcinosis, kidney stones, and kidney failure.
  • Dent disease 1 (DD1) accounts for 60% of cases and results from pathogenic variants in the CLCN5 gene.

Purpose of the Study:

  • To investigate the correlation between CLCN5 variant types and clinical manifestations in Dent disease 1.
  • To compare clinical and genetic factors in patients with truncating versus nontruncating CLCN5 variants.

Main Methods:

  • Retrospective review of 162 patients from 121 families with genetically confirmed DD1.
  • Analysis of 82 different pathogenic CLCN5 variants, categorized as truncating or nontruncating.
  • Comparison of clinical outcomes using observational statistics.

Main Results:

  • 110 patients had truncating variants, and 52 had nontruncating variants; 16 new variants were identified.
  • Truncating variants correlated with lifetime stone events and earlier onset of kidney disease.
  • Patients with truncating variants showed higher albuminuria; kidney failure was primarily associated with truncating variants.

Conclusions:

  • The severity of Dent disease 1 manifestations, including kidney stone risk and progression to kidney failure, may be linked to the residual function of the CLC-5 protein.
  • Understanding variant type impact aids in predicting disease course and patient management.