The diagnostic accuracy of ultrasound and genomic tests for the diagnosis of autosomal-dominant polycystic kidney disease: a systematic mapping review
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 <i>PKD1</i> to include <i>PKD2</i> 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. <b>Registration:</b> PROSPERO CRD42023456727.
Authors
- S Harnan (ORCID: https://orcid.org/0000-0002-9318-9206)
- Albert Ong (ORCID: https://orcid.org/0000-0002-7211-5400)
- James Fotheringham (ORCID: https://orcid.org/0000-0002-8980-2223)
- Matthew Gittus (ORCID: https://orcid.org/0000-0002-8406-2027)
- Olena Mandrik (ORCID: https://orcid.org/0000-0003-3755-3031)
- Louise Falzon (ORCID: https://orcid.org/0000-0002-9449-6056)
- Miranda Durkie (ORCID: https://orcid.org/0000-0001-7071-7048)
Institutions
- Sheffield Children's NHS Foundation Trust (GB)
- Sheffield Kidney Institute (GB)
- University of Sheffield (GB)
Publication Details
- Journal
- Clinical Kidney Journal
- Published
- 2025-06-13
- DOI
- https://doi.org/10.1093/ckj/sfaf187
- Primary Topic
- Genetic and Kidney Cyst Diseases
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- National Institute for Health and Care Research
- Department of Health and Social Care
- Research for Patient Benefit Programme