- Requirement for renal replacement therapy (dialysis or kidney transplantation) at age < 50 years in the absence of an identified cause
- Unaffected individuals have undergone appropriate screening for cryptic disease
- Individuals with paediatric onset of kidney failure or evidence of syndromic disease should be recruited according to standard guidance.
- In other cases, unaffected individuals should not be recruited.
- Recruitment in such families should favour families with multiple affected individuals available to participate in the study over singletons. These singleton recruits will not contribute to the overall singleton monitoring metrics applied per GMC but will be capped across the study at one third of the total genomes for the disorder.
- Likely or proven diabetic nephropathy
- Likely or proven renovascular disease
- Identified glomerular disorder on kidney biopsy (other than glomerulocystic disease, ischaemic changes or secondary glomerulosclerosis)
- Evidence autoimmune, infectious, malignant, metabolic or other systemic disorder likely to be responsible for kidney disease
- Renal sarcoidosis or tuberculosis
- Paraproteinaemia (unless kidney biopsy shows no evidence of renal monoclonal deposition)
- Exposure to nephrotoxin (drug or toxin) suspected of causing renal dysfunction
- Obstructive uropathy
- Significant proteinuria (>1g/day; uPCR >100) at presentation (see proteinuric renal disease inclusion criteria)
- Identified tubular/electrolyte/acid base disorder (see RTA/electrolyte disorder eligibility criteria)
- >5 kidney cysts (see cystic renal disease eligibility statement)
- Nephrolithiasis (see renal stone disease eligibility criteria)
- Congenital anomaly of kidney and urinary tract including reflux nephropathy (see CAKUT eligibility criteria)
Prior genetic testing guidance
- Results should have been reviewed for all genetic tests undertaken, including disease-relevant genes in exome sequencing data. The patient is not eligible if they have a molecular diagnosis for their condition.
- Genetic testing should continue according to routine local practice for this phenotype regardless of recruitment to the project; results of these tests must be submitted via the ‘Genetic investigations’ section of the data capture tool to allow comparison of WGS with current standard testing.
PLEASE NOTE: The sensitivity of WGS compared to current diagnostic genetic testing has not yet been established. It is therefore important that tests which are clinically indicated under local standard practice continue to be carried out.
Prior genetic testing genes
Testing of the following genes should be carried out PRIOR TO RECRUITMENT where this is in line with current local practice:
- If personal or family history of gout under age of 30 in the absence of CKD stage 3, 4 or 5: UMOD
- If diabetes: HNF1B
These requirements will be kept under continual review during the main programme and may be subject to change.« Back to Disease List