6410: Systematic Review of Clinical Biopsies of Dent Disease Patients

Status: Closed to Accrual

 

Background

Dent disease is a rare hereditary disorder that can cause kidney stones, nephrocalcinosis (calcium deposits in the kidney tissue), and end stage renal failure (kidney failure).

This study will look at the patients that have Dent disease and have had a kidney biopsy. The patient's medical reports and the kidney tissue obtained from the kidney biopsy will be examined to see if there are any common findings with other Dent disease patients.

Different Dent disease patients can have different symptoms, so it can be hard to make a Dent disease diagnosis. Because of this, many Dent disease patients are never diagnosed. Some patients have more typical symptoms (kidney stones, kidney calcifications, too much protein and calcium in the urine). Other patients have more severe amounts of protein in the urine and their symptoms can easily be confused with other kidney diseases. This study will help doctors better understand why Dent disease patients have different symptoms, what the different symptoms mean, and how to treat the different symptoms.

The research questions are:

  1. What kinds of changes are found in the kidney tissue of Dent disease patients?
  2. How many Dent disease patients have changes to the tiny blood vessels or filtering tubules in their kidneys?
  3. Is there nephrocalcinosis (calcification) in the kidney tissue of Dent disease patients?
  4. How do the changes to the kidney tissue match with a Dent disease patient's medical information (lab tests, genetic mutation tests).

About this Study

This is an observational study. There are no risks involved with this study.

There will be a total of 25 participants in this study and the Dent disease patients will be recruited from the RKSC Dent Disease Registry. We will be examining data and biopsy slides that have already been collected. There are no tests or procedures associated with this study.

Subjects that agree to be in the study will be asked to:

  • Provide a signed medical release form allowing us to request your official kidney biopsy reports, and also allowing us to request the original slides (of the kidney tissue) for review. At the end of the study, all slides will be returned to the referring facility.

Targeted Enrollment

Who is eligible to participate?

  • Be a participant in the Dent Disease Registry with a previous renal (kidney) biopsy.

You are not eligible to participate if:

  • You have not had a previous kidney biopsy.