NCT01312727已完成不适用
Phenotypical and Genetic Characterization of Adult Hereditary Chronic Tubulointerstitial Renal Diseases
适应症
试验速览
- 阶段
- 不适用
- 状态
- 已完成
- 入组人数
- 225
- 试验地点
- 2
- 主要终点
- Genotype of HTIN
研究概览
简要总结
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.
详细描述
- 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).
研究设计
- 研究类型
- Interventional
- 分配方式
- Na
- 干预模型
- Single Group
- 主要目的
- Screening
- 盲法
- None
入排标准
- 年龄范围
- 18 Years 至 —（Adult, Older Adult）
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •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 / 1,73m
- •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.
排除标准
- •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
结局指标
主要结局
Genotype of HTIN
时间窗: after 18 months
Number of patients/families with mutations in known genes responsible for HTIN
次要结局
- Uromodulin dosage in urine(at 18 months)
研究者
研究点 (2)
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