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Paediatrics

Presentation: Child with cystic renal disease

In the majority of children presenting with cystic renal disease, there is an underlying monogenic cause.

Example clinical scenario

A 13-year-old girl presents to her GP with symptoms of polyuria, back pain and fatigue. Previous blood tests revealed renal impairment and resulted in hospital admission. There is no family history of note. Further investigations were performed including a renal ultrasound, which showed bilateral cortico-medullary cysts.

When to consider genomic testing

  • Testing is recommended for patients with non-syndromic cystic renal disease, for example autosomal recessive polycystic kidney disease (ARPKD) or autosomal dominant polycystic kidney disease (ADPKD) (excluding acquired cystic disease due to chronic or end stage kidney disease), which is either: 
    • clinically not characteristic of ADPKD and an underlying diagnosis would support management;
    • clinically symptomatic (pain, hypertension, haematuria, urinary tract infections) disease presenting before the age of 18 years; or
    • suggestive of ADPKD and an underlying diagnosis is required to influence management.

What do you need to do?

  • Consult the National Genomic Test Directory. From here you can access the rare and inherited disease eligibility criteria for information about individual tests and their associated eligibility criteria. You can also access a spreadsheet of all available tests.
  • For information about the genes that are included on different gene panels, see the NHS Genomic Medicine Service (GMS) Signed Off Panels Resource.
  • Decide which of the tests best suits the needs of your patient/family. For cystic renal disease, there are a number of available tests including:
    • R193 Cystic renal disease: This indication should be used when a child presents with renal cysts on ultrasound (where acquired or syndromic causes are excluded) or with symptoms before the age of 18 years, or when a genetic diagnosis is requirement for management. This test includes a whole genome sequencing (WGS) panel.
    • R257 Unexplained young onset end-stage renal disease: This indication should be used for patients up to 36 years of age presenting with unexplained end-stage renal disease where no cause has been identified by clinical assessment, biochemistry, imaging or biopsy. This test includes a WGS panel. See also:
    • R141 Monogenic diabetes: This indication should be used for patients with suspected renal cysts and diabetes syndrome (RCAD). This test includes whole exome sequencing or a medium-sized gene panel and multiplex ligation-dependent probe amplification (MLPA) or equivalent.
    • R202 Tubulointerstitial kidney disease: This indication is for patients with tubulointerstitial fibrosis with no glomerular lesion and no identifiable cause, often associated with medullary cysts, hyperuricaemia, or gout, if they have a relative with tubulointerstitial kidney disease (TIKD) or unexplained end-stage renal disease. This includes a small gene panel and MLPA. See also:
    • R27 Paediatric disorders, and R89 Ultra-rare and atypical monogenic disorders: These should be considered for individuals with complex or syndromic presentations. R89 includes microarray and WGS panels selected by the requesting clinician. R27 is an amalgamation of over 10 panels of genes known to be associated with a broad range of paediatric developmental disorders. It may now be ordered directly by paediatricians, though a discussion with clinical genetics services may be beneficial.
    • R240 Diagnostic testing for known variant(s): Can be used for a patient who is clinically affected with cystic renal disease if a member of the family already has a known pathogenic or likely pathogenic variant. In this situation, the laboratory will only test for the known familial variant.
    • R242 Predictive testing for known familial variant(s): A predictive (also known as presymptomatic) test for unaffected individuals who have a family member with a known pathogenic or likely pathogenic variant. This test requires authorisation from clinical genetics.
  • For tests that do not include WGS, including R202, R141, R240 and R242:
  • For tests that are undertaken using WGS, including R193, R257, R27 and R89, you will need to:
  • When testing in children, parental samples may be helpful for interpretation of the proband’s result. Parental samples can be taken alongside that of the proband, and their DNA stored, or can be requested at a later date if needed.
  • Most tests are DNA based, and an EDTA sample (typically a purple-topped tube) is required. There are a few tests for which a different type of tube is used; see Samples for genomic testing in rare disease.
  • If you are discussing genomics concepts with your patients, you may find it helpful to use the visual communication aids for genomics conversations.
  • Information about patient eligibility and test indications was correct at the time of writing. When requesting a test, please refer to the National Genomic Test Directory to confirm the right test for your patient.

Resources

References:

For patients

Polycystic Kidney Disease Charity

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  • Last reviewed: 25/02/2026
  • Next review due: 25/02/2027
  • Authors: Dr Felicity Beal
  • Reviewers: Dr Danielle Bogue, Professor Richard Sandford, Professor John Sayer

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