Alport Syndrome
Conditions
Interventions
Observation group:None
Sponsors
Xinhua Hospital Affiliated to Shanghai Jiaotong University School of Medicine
Eligibility
Sex/Gender
All
Age
1 Years to 80 Years
Inclusion criteria
Inclusion criteria: 1. By January 31, 2026, visit the nephrology department of each participating unit; 2. Confirmed by genetic testing to carry the pathogenic/probable pathogenic variants of COL4A3 and/or COL4A4 and/or COL4A5 genes 3. There are electronic medical records for retention (the baseline start date of each participating unit may be different), and clinical data can be obtained: 1) Clinical characteristics: gender, age, history of present illness, treatment drugs, combined with chronic underlying diseases (hypertension, diabetes, coronary heart disease, chronic kidney disease CKD and stage, etc.), family history of kidney disease, smoking history, alcohol history, height, body weight, body mass index (BMI), systolic blood pressure, diastolic blood pressure, estimated glomerular filtration rate (eGFR), response to RASI; 2) Laboratory test indicators: blood routine, serum creatinine Scr, urea nitrogen BUN, uric acid UA, urine routine, 24-hour urine protein quantification, urine phase red blood cell microscopic examination, urine albumin/creatinine ratio, etc.; 3) Imaging auxiliary examination: urinary system B ultrasound or CT, MRI; 4) COL4A3/COL4A4/COL4A5 capture sequencing results.
Exclusion criteria
Exclusion criteria: 1. Incomplete clinical, laboratory, auxiliary examination, and genetic testing data; 2. Unable to obtain informed consent.
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| 24hUTP;eGFR;UACR; | — |
Countries
China
Contacts
Public ContactJiang Gengru
Xinhua Hospital Affiliated to Shanghai Jiaotong University School of Medicine
Outcome results
None listed