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Update on Dent Disease.

Abdulla M Ehlayel1, Lawrence Copelovitch2

  • 1Division of Nephrology, The Children's Hospital of Philadelphia, 3401 Civic Center Boulevard, Philadelphia, PA 19104, USA.

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|November 21, 2018
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Summary
This summary is machine-generated.

Dent disease is a rare kidney disorder affecting males, causing symptoms like kidney stones and kidney dysfunction. Caused by mutations in CLCN5 or OCRL1 genes, it requires careful management and ongoing research for new therapies.

Keywords:
CLCN5Chronic kidney diseaseDent diseaseNephrolithiasisOCRL1

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Area of Science:

  • Nephrology
  • Genetics
  • Molecular Biology

Background:

  • Dent disease is an X-linked kidney disorder.
  • It presents with hypercalciuria, proteinuria, nephrocalcinosis, and proximal tubular dysfunction.
  • Clinical manifestations vary widely among affected individuals.

Purpose of the Study:

  • To provide a comprehensive overview of Dent disease.
  • To detail its clinical presentation, genetic basis, and pathophysiology.
  • To discuss current management strategies and future therapeutic directions.

Main Methods:

  • Review of existing literature on Dent disease.
  • Analysis of clinical case studies and genetic data.
  • Synthesis of information on pathophysiology and treatment.

Main Results:

  • Dent disease is caused by mutations in CLCN5 (Dent-1) and OCRL1 (Dent-2) genes.
  • Symptoms range from early-onset rickets to asymptomatic chronic kidney disease.
  • Proximal tubular dysfunction is a key feature.

Conclusions:

  • Dent disease necessitates a thorough understanding of its diverse clinical and genetic landscape.
  • Effective management requires tailored approaches based on individual presentation.
  • Further research into pathophysiology will guide the development of novel therapies.