Gout Clinical Trial
Official title:
Phenotypical and Genetic Characterization of Adult Hereditary Chronic Tubulointerstitial Renal Diseases
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.
- 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).
;
Intervention Model: Single Group Assignment, Masking: Open Label, Primary Purpose: Screening
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