Genotype-Phenotype Correlations in Patients With Alport Syndrome
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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.
Condition or disease
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.
Identification COL4A3/COL4A4/COL4A5 variants of Alport Syndrome [ Time Frame: 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
Secondary Outcome Measures :
Identification genotype-phenotype correlations of Alport Syndrome [ Time Frame: Up to 240 weeks ]
Exploring correlations between variants of COL4A3/COL4A4/COL4A5 and the clinical robustness including onset age of hearing loss, nephroticrange proteinuria, decline of eGFR, kidney survival and onset age of CKD5 in Alport syndrome patients
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Layout table for eligibility information
Ages Eligible for Study:
Child, Adult, Older Adult
Sexes Eligible for Study:
Accepts Healthy Volunteers:
Patients from Xinhua Hospital, Shanghai Jiao Tong University School of Medicine and other 26 hospitals of China Huadong Region.
Age: up to 99 Years (Child, Adult, Older Adult)
Families and patients with a history of renal hematuria;