Renal tract calcification (or Nephrolithiasis/nephrocalcinosis)


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 Inclusion criteria:

  • Nephrolithiasis or nephrocalcinosis AND one or more of:
    • Age of first episode under 21
    • Positive family history of stones/nephrocalcinosis in first or second degree relative
    • Hyper/hypocalcaemia
    • Abnormal PTH in setting of normal eGFR
    • Metabolic acidosis/alkalosis
    • Hypercalciuria
    • Hyperphosphaturia
    • Hyperoxaluria
    • Aminoaciduria
    • Hypocitraturia
    • Hypermagnesuria

AND

  • Unaffected individuals have undergone appropriate investigation for cryptic disease
  • Individuals with severe or syndromic disease should be recruited according to standard guidance, preferably as trios
  • 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:

  • Excluding infection stones

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:

  • AGXT, GRHPR, HOGA1 if Hyperoxaluria – ATP6V1B1, ATP6V0A4, SLC4A1 if distal renal tubular acidosis – SLC3A1, SLC7A9 if cystinuria – CASR if hypocalciuric hypercalcaemia

Closing statement

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

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