ArticleJournal of clinical medicine2020
Prediction of Renal Prognosis in Patients with Autosomal Dominant Polycystic Kidney Disease Using PKD1/PKD2 Mutations.
Article in Journal of clinical medicine, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 22 papers.
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Who cites it
22 citing papers in PubMed, 38 citations in OpenAlex.
- Attribute-based cross-classification reveals sex- and age-specific prognostic impact of anemia in ADPKD.Clinical and experimental nephrology · 2026Article
- Association of anemia with long-term renal prognosis in autosomal dominant polycystic kidney disease using time-series analysis.Scientific reports · 2026Article
- Machine learning for predicting CKD stages in patients with autosomal dominant polycystic kidney disease: a nationwide cohort study in Japan.Scientific reports · 2026Article
- Renal Prognostic Identification in Patients With Autosomal Dominant Polycystic Kidney Disease by Whole Genome Sequencing: A Prospective, Observational Study.Kidney medicine · 2025Article
- Association of hyperphosphatemia with renal prognosis in patients with autosomal dominant polycystic kidney disease.Clinical and experimental nephrology · 2025Article
- International Nephrology Masterclass in Chronic Kidney Disease: Rationale, Summary, and Future Perspectives.Life (Basel, Switzerland) · 2024Review
- Factors associated with early-onset intracranial aneurysms in patients with autosomal dominant polycystic kidney disease.Journal of nephrology · 2024Article
- Role of Female Sex Hormones in ADPKD Progression and a Personalized Approach to Contraception and Hormonal Therapy.Journal of clinical medicine · 2024Review
- DKK3 as a potential novel biomarker in patients with autosomal polycystic kidney disease.Clinical kidney journal · 2024Article
- Public support for patients with intractable diseases in Japan: impact on clinical indicators from nationwide registries in patients with autosomal dominant polycystic kidney disease.Clinical and experimental nephrology · 2023Article
- Factors Associated With the Development and Severity of Polycystic Liver in Patients With Autosomal Dominant Polycystic Kidney Disease.Journal of Korean medical science · 2023Article
- Blocker displacement amplification-based genetic diagnosis for autosomal dominant polycystic kidney disease and the clinical outcomes of preimplantation genetic testing.Journal of assisted reproduction and genetics · 2023Article
- Visceral fat and attribute-based medicine in chronic kidney disease.Frontiers in endocrinology · 2023Review
- Impact of kidney function and kidney volume on intracranial aneurysms in patients with autosomal dominant polycystic kidney disease.Scientific reports · 2022Article
- Mutation Type and Intracranial Aneurysm Formation in Autosomal Dominant Polycystic Kidney Disease.Stroke (Hoboken, N.J.) · 2022Article
- Germline Mutations for Kidney Volume in ADPKD.Kidney international reports · 2022Article
- Predictors of progression in autosomal dominant and autosomal recessive polycystic kidney disease.Pediatric nephrology (Berlin, Germany) · 2021Review
- Clinical and genetic characteristics of Korean autosomal dominant polycystic kidney disease patients.The Korean journal of internal medicine · 2021Review
- Predicting liver cyst severity by mutations in patients with autosomal-dominant polycystic kidney disease.Hepatology international · 2021Article
- Sex Differences in Time-Series Changes in Pseudo-Journal of personalized medicine · 2020Article
Corrections and comments
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Authors and funding
13 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Autosomal dominant polycystic kidney disease (ADPKD) patients with PKD1 mutations, particularly those with truncating mutations, show poor prognosis. However, the differences in disease progression with different mutation types are unclear. Here, a comparative study was conducted on the renal prognosis of patients with ADPKD who were categorized based on genotype (PKD1 versus PKD2 mutation), mutation type (truncating mutation: nonsense, frameshift, splicing mutation, and large deletion; non-truncating mutation: substitution and in-frame deletion), and mutation position. A total of 123 patients visiting our hospital were enrolled. Renal prognosis was poor for those with PKD1 splicing, PKD1 frameshift, and PKD2 splicing mutations. Despite the truncating mutation, the renal prognosis was relatively favorable for patients with nonsense mutations. Three out of five patients with PKD2 mutation required renal replacement therapy before 58 years of age. In conclusion, we showed that renal prognosis differs according to mutation types in both PKD1 and PKD2, and that it was favorable for those with nonsense mutations among patients with PKD1 truncating mutations. It was also confirmed that renal prognosis was not always favorable in patients with PKD2 mutations. A detailed assessment of mutation types may be useful for predicting the renal prognosis of patients with ADPKD.
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