Proteinuric renal disease


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Inclusion criteria

  • Urinary protein:creatinine ratio >100 mg/mmol OR albumin:creatinine ratio >30 mg/mmol on 2 or more occasions over more than 1 month AND one or more of
  • Family history of renal failure or proteinuria by the above criteria or parental consanguinity AND
  • Kidney biopsy in at least one family member showing Diffuse Mesangial Sclerosis, FSGS or glomerular pathology of likely genetic cause (eg glomerular basement membrane disorder or fibronectin deposition etc)
  • Steroid resistant nephrotic syndrome <5yrs of age (Urinary protein:creatinine ratio > 300 mg/mmol or >3g day proteinuria; Hypoalbuminaemia; oedema persistent after 6 weeks’ or more treatment with steroids)

Individuals with severe or syndromic disease should be recruited according to standard guidance, typically as trios. Disease status of apparently unaffected participants should be determined according to standard clinical practice to detect cryptic disease. In other cases, unaffected individuals should not be recruited. Recruitment in such families should favour multiplex families over single isolated cases. These singleton recruits will not contribute to the overall singleton monitoring metrics applied to GMCs.

Exclusion criteria

  • Orthostatic proteinuria
  • Proteinuria present only within 6 months of pregnancy
  • Proteinuric renal disease attributable to obesity or systemic disorder (including but not limited to: diabetes mellitus, SLE or other autoimmune disease, infection, malignancy, paraproteinaemia, amyloidosis, Fabry disease, cystinosis, drugs etc)
  • Proteinuria or FSGS secondary to other identified primary renal disorder (e.g. MPGN, IgA nephropathy etc)

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:

No gene accounts for >10% of cases. Consideration of sequencing with (UKGTN approved) SRNS gene panel of 33 genes, which detected a mutation in ~20% of cases.

Closing statement

These requirements will be kept under continual review during the main programme and may be subject to change.

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