Method used to arrive at a recommendation
Population | Intervention | Comparison | Outcome | Study design |
---|---|---|---|---|
Children (< 18) with a confirmed diagnosis of ADPKD or at risk of ADPKD due to their family history | Ultrasonography Cranial imaging Blood Pressure monitoring Monitoring for albuminuria Therapeutics Genetic counselling | Any intervention compared with any other or no intervention | Mortality Hospitalisations Chronic Kidney Disease Cardiovascular disease Hypertension | Randomised controlled trials (RCT) Non-randomised studies if adjusted for key confounders (age, health at baseline, co-morbidities). |
Background
Summary of clinical practice guidelines
Guideline 1
Guideline 2
Guideline 3
Guideline 4
Guideline 5
Guideline 6
Summary of audit measures
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Audit Measure 1: Proportion of parents or carers of children at risk of developing ADPKD offered information on ADPKD inheritance and potential benefits and harms of testing for ADPKD
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Audit Measure 2: Proportion of children and young people aged 5 years and above with, or at risk of developing ADPKD, having an assessment of blood pressure (BP) at least once every 2 years
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Audit Measure 3: Proportion of asymptomatic children and young people at risk of developing ADPKD offered testing for ADPKD
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Audit Measure 4:a.Proportion of asymptomatic children and young people at risk of developing ADPKD offered genetic testing for ADPKDb.Proportion of asymptomatic children and young people at risk of developing ADPKD offered ultrasound testing for ADPKD
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Audit Measure 5: Proportion of asymptomatic children at risk of ADPKD who do not have cysts on ultrasound, having repeated ultrasound testing prior to adolescence (15–18 years)
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Audit Measure 6: Proportion of asymptomatic children at risk of ADPKD whose parents have been tested for a genetic mutation prior to the child being tested
Summary of research recommendations
Rationale for clinical practice guidelines
Guideline 1
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Audit Measure 1: Proportion of parents or carers of children at risk of developing ADPKD offered information on ADPKD inheritance and potential benefits and harms of testing for ADPKD
Rationale
Guideline 2
Rationale
Guideline 3
Rationale
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Age and ‘Gillick’ competence of the CYP and consideration of whether to wait until they can make a fully-informed decision.
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Risk of false negative results for ultrasound and genetic tests as described on page 9
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Implications for ongoing management. Blood pressure monitoring is likely to be as important as making the diagnosis in preventing long term complications, but this should be balanced against the psychological benefits of confirming / refuting (noting risk of false negative results) ADPKD. The discussion is likely to change when new treatments become available for children and young people with ADPKD.
Guideline 4
Rationale
Guideline 5
Rationale
Guideline 6
Rationale
Rationale for research recommendations
Rationale
Rationale
Lay summary
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health professionals with specialist knowledge in ADPKD offer you information on inheritance and potential benefits and harms of testing for ADPKD.
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the decision to test and the method of testing for ADPKD in children and young people is shared between you or your family and the health professionals
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blood pressure assessment is undertaken regularly in children and young people at risk of developing ADPKD