Hereditary Tubulointerstitial Nephritis

Study Overview
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Brief Summary
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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
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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).

Official Title
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Phenotypical and Genetic Characterization of Adult Hereditary Chronic Tubulointerstitial Renal Diseases

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

Intervention / Treatment
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* Other: Blood and urine sample collections


Participation Criteria
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Eligibility Criteria
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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

Ages Eligible for Study
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Minimum Age: 18 Years

Sexes Eligible for Study
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All

Accepts Healthy Volunteers
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No

Study Plan
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How is the study designed?
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Design Details

Primary Purpose: Screening
Intervention Model: Single Group Assignment
Masking: None (Open Label)


Arms and Interventions

| Participant Group/Arm | Intervention/Treatment |
| --- | --- |
| Other: HTIN<br>HTIN | Other: Blood and urine sample collections<br>* phenotype and genotype analysis, biological analysis<br>* Other names: phenotype and genotype analysis, biological analysis;|

What is the study measuring?
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Primary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| Genotype of HTIN | Number of patients/families with mutations in known genes responsible for HTIN | after 18 months | 

Secondary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| Uromodulin dosage in urine |  | at 18 months | 

 Terms related to the study
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Keywords Provided by Centre Hospitalier Valida
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Hereditary renal diseases, Renin gene, Tubulointerstitial renal diseases, Uromodulin