Harnan, S., Gittus, M., Falzon, L. orcid.org/0000-0002-9449-6056 et al. (4 more authors) (2025) The diagnostic accuracy of ultrasound and genomic tests for the diagnosis of autosomal-dominant polycystic kidney disease: a systematic mapping review. Clinical Kidney Journal, 27 (12). sfaf187. ISSN 2048-8505
Abstract
Background
Genomic and ultrasound tests can provide diagnostic and prognostic information on autosomal dominant polycystic kidney disease (ADPKD), and can screen first degree relatives in whom early diagnosis can be advantageous. We conducted a systematic mapping review on test accuracy and characteristics over time.
Methods
Medline, Embase and Cochrane were searched (August 2023) for studies in first-degree relatives/individuals clinically diagnosed with ADPKD receiving genomic or ultrasound tests. Acceptable reference standards for sensitivity/detection rate and specificity were definitive imaging or genomic confirmation. Genomic studies were categorised by technology and read length. Relationships between sensitivity, specificity, genomic technology, diagnostic criteria/reference standard and genes tested were compared.
Results
From 1029 non-duplicate titles retrieved, 51 genomic and 7 ultrasound studies were included. There were no genomic studies in first degree relatives. Amongst studies in patients with clinical diagnoses, genomic sequencing methodologies were highly heterogeneous (next generation (short read (n=20), long read (n=1)), targeted sanger (n=19), whole exome (n=1) with additional multi-ligation probe analysis (n=13)). Median sensitivity was 78% (Interquartile range 65% to 88%). Ultrasound sensitivity and specificity generally improved with age and were worse in PKD2 patients compared to PKD1 (lowest reported 31% and 88% respectively in polycystic kidney disease (PKD) 2 patients aged 5-14; highest 100% and 100% respectively in multiple gene/age categories).
Conclusions
Despite technological advances, sensitivity of genomic tests appeared static between 2000 and 2023. Possible explanations include clinical diagnostic criteria (and hence populations recruited) widening from PKD1 to include PKD2 and atypical phenotypes, and small incremental gains of testing genes other than PKD1 and PKD2. For people at risk of ADPKD in genetically unresolved families, the accuracy of ultrasound is uncertain. Unified genomic test taxonomies would facilitate future reviews.
Metadata
Item Type: | Article |
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Authors/Creators: |
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Copyright, Publisher and Additional Information: | © The Author(s) 2025. This is an Open Access article distributed under the terms of the Creative Commons Attribution License (https://creativecommons.org/licenses/by/4.0/), which permits unrestricted reuse, distribution, and reproduction in any medium, provided the original work is properly cited. |
Keywords: | ADPKD; detection rate; diagnosis; genomic tests; mapping review; systematic review; ultrasonography |
Dates: |
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Institution: | The University of Sheffield |
Academic Units: | The University of Sheffield > Faculty of Medicine, Dentistry and Health (Sheffield) > School of Medicine and Population Health |
Funding Information: | Funder Grant number National Institute for Health and Care Research NIHR204357 |
Depositing User: | Symplectic Sheffield |
Date Deposited: | 03 Jul 2025 08:56 |
Last Modified: | 03 Jul 2025 08:56 |
Status: | Published online |
Publisher: | Oxford University Press (OUP) |
Refereed: | Yes |
Identification Number: | 10.1093/ckj/sfaf187 |
Related URLs: | |
Open Archives Initiative ID (OAI ID): | oai:eprints.whiterose.ac.uk:228710 |