Hereditary Tubulointerstitial Nephritis

Assistance Publique - Hôpitaux de Paris225 enrolled

Overview

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).

Study Type

INTERVENTIONAL

Allocation

Purpose

SCREENING

Masking

NONE

Enrollment

225

Conditions

Nephritis, Interstitial Chronic Renal Failure Gout Renal Cysts

Interventions

Blood and urine sample collectionsOTHER

phenotype and genotype analysis, biological analysis

Eligibility

Sex: ALLMin age: 18 Years

Medical Language ↔ Plain English

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

Locations (1)

Hôpital Necker Enfants Malades

Paris, France

Outcomes

Primary Outcomes

Genotype of HTIN

Number of patients/families with mutations in known genes responsible for HTIN

Time frame: after 18 months

Secondary Outcomes

Uromodulin dosage in urine

Time frame: at 18 months

Data from ClinicalTrials.gov

This platform is for informational purposes only and does not constitute medical advice. Always consult a qualified healthcare professional.