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.
Age: up to 99 Years (Child, Adult, Older Adult)
Sex: All;
Families and patients with a history of renal hematuria;
Those who signed the informed consent.
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.
Patients from Xinhua Hospital, Shanghai Jiao Tong University School of Medicine and other 26 hospitals of China Huadong Region.
Cohort
Prospective
Not listed
Identification COL4A3/COL4A4/COL4A5 variants of Alport Syndrome
To characterize the variants of COL4A3/COL4A4/COL4A5 in patients with Alport syndrome over the course of up to 240 weeks
Identification genotype-phenotype correlations of Alport Syndrome
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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