Dent Disease Registry | NYU Langone Health

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Division of Nephrology Research Dent Disease Registry

Dent Disease Registry

Dent disease is a rare genetic disorder that most commonly presents with low-molecular-weight proteinuria, hypercalciuria, nephrolithiasis, and nephrocalcinosis, and may cause kidney failure. Most patients affected by this X-linked recessive disorder have mutations in one of two known genes, CLCN1 or OCRL1.

Because Dent disease is so rare, most physicians typically have limited training and experience with it. It is reasonable to suspect that a number of cases of Dent disease remain undiagnosed. Therefore, many aspects of the condition are not well defined, and there has been little opportunity to critically evaluate possible treatments. Previous studies have lacked sufficient patient numbers and long-term follow-up.

The goal of the Dent Disease Registry, established by principal investigator Lada Beara Lasic, MD, is to identify features of the disease that are poorly understood:

  • What factors other than genotype, such as age, gender, diet, and medications, affect the formation of stones?
  • What risk factors account for the increased risk of chronic kidney disease in people who have Dent disease?
  • Which medications can modify progression into chronic kidney disease?

The Dent Disease Registry is part of the largest-ever longitudinal clinical registry to determine the risk factors for chronic kidney disease and stone recurrence in patients with the condition. We also hope that the data collected in this registry will enable researchers to discover patterns and associations that will expand our understanding of Dent disease.

Join the Dent Disease Registry

To enroll in the Dent Disease Registry, please email Dr. Beara Lasic at