Genotype-Phenotype Correlations in Patients With Alport Syndrome

Trial statusRecruiting
Trial phaseNot listed
Trial typeObservational
Biological sexAll
AgeNot listed
SponsorXinhua Hospital, Shanghai Jiao Tong University School of Medicine

About this trial

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 criteria

Qualifiers

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.

Disqualifiers

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.

Trial design

Treatments tested in this trial

  • Not listed

Trial groups

No trial groups listed