ArticleGenetics in medicine : official journal of the American College of Medical Genetics2020
Matching clinical and genetic diagnoses in autosomal dominant polycystic kidney disease reveals novel phenocopies and potential candidate genes.
Article in Genetics in medicine : official journal of the American College of Medical Genetics, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 28 papers.
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Who cites it
28 citing papers in PubMed, 45 citations in OpenAlex.
- From Guidelines to Practice: Pilot Implementation and Analytical Boundaries of a Focused ADPKD-Spectrum Gene Panel.Diagnostics (Basel, Switzerland) · 2026Article
- An NGS-based investigation of copy number variants in the diagnosis and severity of adult polycystic kidney disease.European journal of human genetics : EJHG · 2026Article
- Results of Multigene Panel Testing, IncludingKidney medicine · 2026Article
- Evaluating gene variations in autosomal dominant polycystic kidney disease patients using whole exome sequencing and phenotype to genotype analysis.Renal failure · 2025Article
- ADPKD Progression by Variant Type and Molecular Domain Among Participants in the HALT PKD Trial.Clinical journal of the American Society of Nephrology : CJASN · 2025Article
- The diagnostic accuracy of ultrasound and genomic tests for the diagnosis of autosomal-dominant polycystic kidney disease: a systematic mapping review.Clinical kidney journal · 2025Article
- Characterization of the Cystic Phenotype Associated with Monoallelic ALG8 and ALG9 Pathogenic Variants.Journal of the American Society of Nephrology : JASN · 2025Article
- Novel Potential Therapeutic Targets in Autosomal Dominant Polycystic Kidney Disease from the Perspective of Cell Polarity and Fibrosis.Biomolecules & therapeutics · 2024Review
- Clinical manifestation, epidemiology, genetic basis, potential molecular targets, and current treatment of polycystic liver disease.Orphanet journal of rare diseases · 2024Review
- OGM and WES identifies translocation breakpoints in PKD1 gene in an polycystic kidney patient and healthy baby delivered using PGT.BMC medical genomics · 2023Article
- KidneyNetwork: using kidney-derived gene expression data to predict and prioritize novel genes involved in kidney disease.European journal of human genetics : EJHG · 2023Article
- Article
- Genetic Spectrum of Polycystic Kidney and Liver Diseases and the Resulting Phenotypes.Advances in kidney disease and health · 2023Review
- Novel α-1,3-Glucosyltransferase Variants and Their Broad Clinical Polycystic Liver Disease Spectrum.Genes · 2023Article
- Article
- Clinical Implementation of an Artificial Intelligence Algorithm for Magnetic Resonance-Derived Measurement of Total Kidney Volume.Mayo Clinic proceedings · 2023Article
- Individuals heterozygous for ALG8 protein-truncating variants are at increased risk of a mild cystic kidney disease.Kidney international · 2023Article
- The genetic landscape of autosomal dominant polycystic kidney disease in Kuwait.Clinical kidney journal · 2023Article
- Modelling polycystic liver disease progression using age-adjusted liver volumes and targeted mutational analysis.JHEP reports : innovation in hepatology · 2022Article
- Review of genetic testing in kidney disease patients: Diagnostic yield of single nucleotide variants and copy number variations evaluated across and within kidney phenotype groups.American journal of medical genetics. Part C, Seminars in medical genetics · 2022Review
Corrections and comments
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Authors and funding
11 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
purposeAutosomal dominant polycystic kidney disease (ADPKD) represents the most common hereditary nephropathy. Despite growing evidence for genetic heterogeneity, ADPKD diagnosis is still primarily based upon clinical imaging criteria established before discovery of additional PKD genes. This study aimed at assessing the diagnostic value of genetic verification in clinical ADPKD.
methodsIn this prospective, diagnostic trial, 100 families with clinically diagnosed ADPKD were analyzed by PKD gene panel and multiplex ligation-dependent probe amplification (MLPA); exome sequencing (ES) was performed in panel/MLPA-negative families.
resultsDiagnostic PKD1/2 variants were identified in 81 families (81%), 70 of which in PKD1 and 11 in PKD2. PKD1 variants of unknown significance were detected in another 9 families (9%). Renal survival was significantly worse upon PKD1 truncation versus nontruncation and PKD2 alteration. Ten percent of the cohort were PKD1/2-negative, revealing alternative genetic diagnoses such as autosomal recessive PKD, Birt-Hogg-Dubé syndrome, and ALG9-associated PKD. In addition, among unsolved cases, ES yielded potential novel PKD candidates.
conclusionBy illustrating vast genetic heterogeneity, this study demonstrates the value of genetic testing in a real-world PKD cohort by diagnostic verification, falsification, and disease prediction. In the era of specific treatment for fast progressive ADPKD, genetic confirmation should form the basis of personalized patient care.
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