Genotype-Phenotype Correlations in Patients With Alport Syndrome
Association Analysis Between Variants of COL4A3/COL4A4/COL4A5 and Alport Syndrome in the Han Chinese Population
Xinhua Hospital, Shanghai Jiao Tong University School of Medicine
8,165 participants
Jan 1, 2021
OBSERVATIONAL
Conditions
Summary
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.
Eligibility
Inclusion Criteria4
- 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.
Exclusion Criteria3
- 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.
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Locations(1)
View Full Details on ClinicalTrials.gov
For the most up-to-date information, visit the official listing.
NCT04947813