Alport syndrome
Conditions
Interventions
None listed
Sponsors
Japanese Society of Pediatric Nephrology
Eligibility
Sex/Gender
All
Inclusion criteria
Inclusion criteria: 1) Patients with persistent hematuria who have been confirmed to have Alport syndrome by genetic or histopathological examination 2) Patients with persistent hematuria whose relatives have already been diagnosed with Alport syndrome by genetic or histopathological examination
Exclusion criteria
Exclusion criteria: 1)Patients who have declined to provide their data when opting in consent or opting out consent 2)Patients who have only heterozygous mutations in the COL4A3 or COL4A4 gene, urinary findings are only hematuria and no proteinuria, renal function is normal, and family history also shows only hematuria. * To date, the definition of basement membrane thinning syndrome has not been determined, but in this study, such cases are treated as basement membrane thinning syndrome. ** As shown in the selection criteria 2), if there is a patient in the family who has urinary protein or renal dysfunction and is diagnosed with autosomal dominant Alport syndrome, hematuria-only patients are also enrolled. If you are uncertain about your decision, consult with the research office. 3) Patients judged to be inappropriate as a target by the judgment of researchers.
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| Age at the start of renal replacement therapy. | — |
Secondary
| Measure | Time frame |
|---|---|
| 1. Estimated glomerular filtration rate (eGFR) 2. Urine protein 3. Age at onset of deafness 4. Time to start renal replacement therapy 5. Time to onset of deafness | — |
Countries
Japan
Contacts
Public ContactMotohiro Sakamine
Translational Research Center for Medical Innovation Study Management Group
Outcome results
None listed