Chronic Renal Failure, Gout, Nephritis, Interstitial, Renal Cysts
Conditions
Keywords
Tubulointerstitial renal diseases, Hereditary renal diseases, Uromodulin, Renin gene
Brief 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).
Interventions
OTHERBlood and urine sample collections
phenotype and genotype analysis, biological analysis
Sponsors
Institut National de la Santé Et de la Recherche Médicale, France
URC-CIC Paris Descartes Necker Cochin
Assistance Publique - Hôpitaux de Paris
Study design
Allocation
NA
Intervention model
SINGLE_GROUP
Primary purpose
SCREENING
Masking
NONE
Eligibility
Sex/Gender
ALL
Age
18 Years to No maximum
Healthy volunteers
No
Inclusion criteria
* Age ≥ 18 years. * HTIN of unknown cause * Chronic renal failure defined by a eGFR (estimated Glomerular Filtration Rate) estimated according to MDRD (Modification of the Diet in Renal Disease) \< 60ml / min / 1,73m2. * At least two siblings affected by gout before 40 years or by chronic renal failure. * Affiliated or benefiting from a national insurance * Signature of the enlightened consent.
Exclusion criteria
* Endstage renal failure before the age of 18 years in all affected subjects of the family. * Microscopic or macroscopic persistent hematuria, or proteinuria \> 1gramme / 24hours. * Other potential cause of TIN (Tubulointerstitial Nephritis): pyelonephritis, drug toxicity. * High blood pressure known for more than 10 years before the discovery of the renal disease. * Major cardiovascular before the discovery of the renal disease. * Chronic auto-immune or infectious disease. * Polycystic kidney disease with increased of the size of the kidneys
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Genotype of HTIN | after 18 months | Number of patients/families with mutations in known genes responsible for HTIN |
Secondary
| Measure | Time frame |
|---|---|
| Uromodulin dosage in urine | at 18 months |
Countries
France
Outcome results
None listed