Genetic Chronic Kidney Disease glomerulonephritis
Conditions
Interventions
None listed
Sponsors
Vrije Universiteit Medisch Centrum
Eligibility
Age
2 Years to 99 Years
Inclusion criteria
Inclusion criteria: Subjects with genetic renal disease (congenital anomalies of the kidney and urinary tract, IgA-nefropathy (biopsy proven), nephrotic syndrome, atypical haemolytic uremic-syndrome (biopsy proven), cystinosis, renal tubulopathies) or children with a high susceptibility for genetic disease due to multiple extra-renal malformations (syndrome) or a positive family history All ages
Exclusion criteria
Exclusion criteria: Absence of informed consent Pathogenic variant already known before study inclusion Disapproval to be informed on genetic findings that are associated with hereditary diseases in later life (e.g. breast cancer, colon cancer, Huntington's disease)
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| Identification of rare known and novel variants (i.e. point mutations and copy-number variations) underlying chronic kidney disease. These variants are absent or extremely rare in the normal population. | — |
Secondary
| Measure | Time frame |
|---|---|
| By associating the genetic findings to the clinical data, we additionally aim to establish genotype-phenotype correlation profiles for all investigated phenotypes. | — |
Countries
Netherlands
Outcome results
None listed