Hereditary Tubulointerstitial Nephritis (NTIH)

Assistance Publique - Hôpitaux de Paris

Status: Completed

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

Treatments: Other: Blood and urine sample collections

Study type: Interventional

Funder types: Other

Identifiers

NCT01312727

P081258

Details and patient eligibility

About

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.

Full 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).

Enrollment: 225 patients

Sex: All

Ages: 18+ years old

Volunteers: No Healthy Volunteers

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

Trial design

Primary purpose: Screening

Allocation: N/A

Interventional model: Single Group Assignment

Masking: None (Open label)

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225 participants in 1 patient group

HTIN

Other group

Description:

HTIN

Treatment:

Other: Blood and urine sample collections