NCT01312727

Hereditary Tubulointerstitial Nephritis

Phenotypical and Genetic Characterization of Adult Hereditary Chronic Tubulointerstitial Renal Diseases

• Status: Completed
• Phase: N/A
• Study type: Interventional
• Enrollment: 225 (actual)
• Sponsor: Assistance Publique - Hôpitaux de Paris · Academic / Other
• Sex: All
• Age: 18 Years
• Healthy volunteers: Not accepted

Summary

The aim of this study is to identify families with hereditary chronic tubulointerstitial renal diseases , characterize the phenotype and screen for mutations in known genesis (UMOD, REN, TCF2, NPHP1). Genome wide analysis will be performed in families without mutations identified.

Detailed description

* Inclusion of affected subjects with familial history of chronic renal failure, early gout ,renal cysts in several hospital in France * Characterization of the phenotype; dosage of the urinary uromodulin in all subjects * Collect DNA samples * Screen for UMO mutations first * Then for REN or TCF2 depending on the phenotype * Validate the use of the dosage of urinary uromodulin for the diagnosis of UMOD associated disease. * Identify new genes responsible for hereditary HTIN (Hereditary Tubulointerstitial Nephritis).

Conditions

• Nephritis, Interstitial
• Chronic Renal Failure
• Gout
• Renal Cysts

Interventions

Type	Name	Description
OTHER	Blood and urine sample collections	phenotype and genotype analysis, biological analysis

Timeline

• Start date: 2010-11-01
• Primary completion: 2014-02-01
• Completion: 2016-07-01
• First posted: 2011-03-11
• Last updated: 2025-12-01

Locations

1 site across 1 country: France