Genotype-Phenotype Correlations in Patients With Alport Syndrome

Association Analysis Between Variants of COL4A3/COL4A4/COL4A5 and Alport Syndrome in the Han Chinese Population

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.

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.

Inclusion Criteria:

1. Age: up to 99 Years (Child, Adult, Older Adult)
2. Sex: All;
3. Families and patients with a history of renal hematuria;
4. Those who signed the informed consent.

Exclusion Criteria:

1. Polycystic kidney disease, hypertensive nephropathy, etc.;
2. 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.
3. Incomplete medical history or clinical data.