The role of Imaging (scans of the kidneys) in the management of Autosomal Dominant Polycystic Kidney Disease
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1 The role of Imaging (scans of the kidneys) in the management of Autosomal Dominant Polycystic Kidney Disease Dr Roslyn Simms NIHR Clinical Lecturer in Nephrology Saturday 17 th September 2016
2 Role of Imaging in the Management of ADPKD Imaging of the Kidneys Overview Types of scans Diagnosis Prognosis/Research Screening Other body parts which may be imaged in ADPKD Liver Brain
3 Imaging of the Kidneys - Overview Scans/Imaging routine early investigation - Diagnosis ( at-risk /incidental) - Single scan Types: Ultrasound - high frequency sound waves - Safe - Simple - Acceptable - Detects cysts 0.5cm
4 Ultrasound in the diagnosis of ADPKD Ultrasound Diagnostic criteria Only used if known family history of ADPKD age related cyst count yrs yrs over 60yrs If younger than 40 years, a negative scan CANNOT exclude ADPKD If initial ultrasound scan negative eg at 15-35yrs will need repeat ultrasound scan when older
5 Imaging of the Kidneys Other types of scans Other more detailed types of imaging: Magnetic Resonance Imaging (MRI) - Powerful magnet & radiowaves - Detailed images - Lie still, periods of breath holding - Safe but noisy earphones to wear - Avoid if metallic implant - Detect cysts ~2-3mm - CT (computed tomography) detailed x-ray Help distinguish stones
6 Imaging of the Kidneys MRI Magnetic Resonance Imaging (MRI) Uses - Assess complications - bleeding - Diagnosis if not clear on ultrasound - Further assessment if potential related kidney donor Exclusion of ADPKD is essential - Measuring Total Kidney Volume currently research future clinical use
7 Why measure Total Kidney Volume (TKV)? Helps understand about progression of ADPKD Blood tests LATE marker TKV is an earlier marker of kidney disease progression Currently research future clinical use Challenging to measure TKV
8 Local lmaging Research in ADPKD Using magnetic resonance imaging (MRI) to identify EARLY markers of progression in ADPKD Aim to identify increased risk of rapid progression early to highlight patients who may benefit from treatment Multiparametric MRI can measure: Blood flow, oxygenation, kidney function, microstructural damage Recruiting patients and healthy volunteers Blood, urine samples and MRI scan Thank you to all who have participated
9 The role of Imaging in Screening for ADPKD
10 Imaging of the kidneys - Screening? What is Screening? A method of assessing healthy, asymptomatic people who may be at increased risk of a condition individual with family history of ADPKD Allows diagnosis before symptoms occur National screening programmes Breast cancer (women, >50yrs) Bowel cancer (everyone >60yrs) Involves a test: Safe, widely available, low cost, acceptable (non-invasive), fit for purpose (high probability of correctly identifying)
11 Screening in ADPKD How? Following genetic counselling Offered to family members of an individual diagnosed with ADPKD (at risk) Methods include: Blood pressure (not specific) Urinalysis (not specific) Blood tests (not specific) Ultrasound scan of kidneys
12 Ultrasound Screening - Caveats May NOT be diagnostic especially young (<40yrs) Falsely diagnose or exclude ADPKD Additional tests may be required - Serial ultrasound/repeat when older - CT/MRI: identifies smaller cysts, potential related kidney donor - Genetic Testing (, time consuming) Provides a definite diagnosis or exclusion of ADPKD: family planning, potential kidney donor, equivocal imaging
13 Screening for ADPKD Who? Family members of an individual with ADPKD Usually adults informed consent Extensive testing if a potential related kidney donor Children? - Many parents want to know - Allow children to decide when old enough? - Controversial - Current recommendations: - Use blood pressure (occurs early)
14 Screening for ADPKD Why? Benefits Early management of blood pressure/complications Education & awareness for family planning New treatment available for some, slows progression Personal curiosity/may exclude diagnosis Disadvantages May face discrimination work/insurance Coping with the diagnosis or feeling guilty (if excluded) for other affected family members
15 Imaging other body parts in ADPKD Liver & Brain
16 Imaging other body parts in ADPKD Patients with ADPKD - Screen for manifestations beyond the kidneys Liver - cysts - Why? common (80% adults) - Usually identify on ultrasound - Explain symptoms, occasionally require specialist referral
17 Imaging other body parts in ADPKD Screen for manifestations beyond the kidneys Brain intracranial aneurysm (ICA) - swelling/ballooning of a blood vessel (weak walls) - Why? - Risk of rupture stroke, life threatening - How? Magnetic resonance angiography Type of MRI involving dye to show blood vessels - NOT everyone with ADPKD needs screening (~8 in 100 people have an ICA) - Who? - Family history of ICA/High risk occupation - Management If negative repeat screening in future
18 Summary: Imaging in the Management of ADPKD Various types of imaging/scanning used - Ultrasound (sound waves) - Magnetic Resonance Imaging (magnet) - Computed Tomography (detailed x-rays) For diagnosis of ADPKD and associated complications To screen for ADPKD/complications in at-risk family members In the future, to inform about progression/decline of kidney function
19 Acknowledgements Mason Medical Research Foundation
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