Association Analysis Between Variants of COL4A3/COL4A4/COL4A5 and Alport Syndrome in the Han Chinese Population
试验速览
- 阶段
- 不适用
- 状态
- 招募中
- 入组人数
- 8,165
- 试验地点
- 1
- 主要终点
- Identification COL4A3/COL4A4/COL4A5 variants of Alport Syndrome
研究概览
简要总结
Alport syndrome (AS) is caused by pathogenic variants in the type IV collagen genes COL4A3, COL4A4, and COL4A5. This study aims to enroll families and patients with a history of renal hematuria in 27 hospitals and detect these three genes for AS screening. This study also aims to analysis the effect of COL4A3/COL4A4/COL4A5 genotype on the development of kidney disease.
详细描述
Alport syndrome (AS) is a genetically and phenotypically heterogeneous disorder caused by the mutations in the type IV collagen genes COL4A3, COL4A4, and COL4A5. In this study, next generation sequencing is used to screen AS on 8165 participants enrolled from families and patients with a history of renal hematuria in 27 hospitals of China Huadong Region. Genotype (variants in COL4A3/COL4A4/COL4A5)-phenotype (onset age of hearing loss, nephroticrange proteinuria, decline of eGFR, kidney survival and onset age of CKD5) correlations in AS were evaluated.
研究设计
- 研究类型
- Observational
- 观察模型
- Cohort
- 时间视角
- Prospective
入排标准
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •Age: up to 99 Years (Child, Adult, Older Adult)
- •Families and patients with a history of renal hematuria;
- •Those who signed the informed consent.
排除标准
- •Polycystic kidney disease, hypertensive nephropathy, etc.;
- •Kidney biopsy is diagnosed as other primary/secondary kidney disease without type IV collagen-related kidney disease, including IgA nephropathy, membranous nephropathy, lupus nephritis, etc.
- •Incomplete medical history or clinical data.
结局指标
主要结局
Identification COL4A3/COL4A4/COL4A5 variants of Alport Syndrome
时间窗: Up to 240 weeks
To characterize the variants of COL4A3/COL4A4/COL4A5 in patients with Alport syndrome over the course of up to 240 weeks
次要结局
- Identification genotype-phenotype correlations of Alport Syndrome(Up to 240 weeks)