Dent Disease Mutation Genotyping



Status:Recruiting
Healthy:No
Age Range:Any
Updated:11/14/2018
Start Date:August 2012
End Date:July 2019
Contact:Barbara M Seide
Email:seide.barbara@mayo.edu
Phone:507-255-0387

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Screening for Dent Disease Mutations in Patients With Proteinuria

This study will help the investigator determine whether certain genetic mutations, more than
others, are a cause of more severe disease in Dent Disease.

During this study visit, the investigator will draw one tube, about two teaspoonfuls (1 to 1
½ teaspoons for children), of blood from the subject's arm to obtain white blood cells. These
white blood cells will be used as a source of DNA for genetic testing. The investigator will
use the isolated DNA to try to identify the gene that is defective in Dent Disease by
comparing it with the structure of genes in normal individuals, patients with Dent Disease,
and family members for Dent Disease.

Inclusion Criteria:

- The patient has been diagnosed, or in the process of being diagnosed with Dent
Disease.

- The patient has a family member diagnosed with Dent Disease.

Exclusion Criteria:

- None
We found this trial at
1
site
Rochester, Minnesota 55905
Principal Investigator: John C Lidske, MD
Phone: 507-255-0387
?
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from
Rochester, MN
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