ArticleKidney international reports2021
Genetic Background and Clinicopathologic Features of Adult-onset Nephronophthisis.
Article in Kidney international reports, 2021. 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, 25 citations in OpenAlex.
- Genetic kidney disease in adults-the pathologists' perspective.Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association · 2026Review
- iPSC-based drug discovery identified the Hippo signaling pathway as a therapeutic target in the fibrosis of NPHP1-deficient nephronophthisis.Stem cell research & therapy · 2025Article
- Ameliorative Effect of an Anti-MicroRNA-21 Oligonucleotide on Animal and Human Models of Cystic Kidney Disease.Kidney360 · 2025Article
- INVS Mutation-Related NPHP2 Nephronophthisis With Glomerulocystic Disease: A Case Report.Kidney medicine · 2025Article
- Utility of Genetic Testing in Adults with CKD: A Systematic Review and Meta-Analysis.Clinical journal of the American Society of Nephrology : CJASN · 2025Article
- CFAP47 is Implicated in X-Linked Polycystic Kidney Disease.Kidney international reports · 2024Article
- Importance ofKidney international reports · 2024Article
- Identification of a Novel Deletion Variant (c.2999_3005delTGTGTGT/p.Asn1000SerfsTer4) in NPHP4 Associated With Nephronophthisis-4.Journal of clinical laboratory analysis · 2024Article
- An update on clinical presentation and responses to therapy of patients with hereditary hypophosphatemic rickets with hypercalciuria (HHRH).Kidney international · 2024Article
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- Genetic Diagnosis of Adult Hemodialysis Patients With Unknown Etiology.Kidney international reports · 2024Article
- Renal infiltration of peripheral T-cell lymphoma, not otherwise specified, mimicking drug-induced acute interstitial nephritis.CEN case reports · 2023Article
- A Novel Multi-Observation System to Study the Effects of Anterior Ocular Inflammation in Zinn's Zonule Using One Specimen.International journal of molecular sciences · 2023Article
- Biallelic variants in CEP164 cause a motile ciliopathy-like syndrome.Clinical genetics · 2023Article
- Kidney Histology Findings in a Patient with Autosomal Dominant Tubulointerstitial Kidney Disease Subtype Hepatocyte Nuclear Factor 1β.Internal medicine (Tokyo, Japan) · 2023Article
- Different Clinical Courses of Nephronophthisis in Dizygotic Twins.Internal medicine (Tokyo, Japan) · 2023Article
- A single heterozygous nonsense mutation in the TTC21B gene causes adult-onset nephronophthisis 12: A case report and review of literature.Molecular genetics & genomic medicine · 2022Review
- Cystic Kidney Diseases That Require a Differential Diagnosis from Autosomal Dominant Polycystic Kidney Disease (ADPKD).Journal of clinical medicine · 2022Review
- Refining Kidney Survival in 383 Genetically Characterized Patients With Nephronophthisis.Kidney international reports · 2022Article
Corrections and comments
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Authors and funding
41 authors at 20 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
introductionRecently, nephronophthisis (NPH) has been considered a monogenic cause of end-stage renal disease (ESRD) in adults. However, adult-onset NPH is difficult to accurately diagnose and has not been reported in a cohort study. In this study, we assessed the genetic background and clinicopathologic features of adult NPH.
methodsWe investigated 18 sporadic adult patients who were suspected as having NPH by renal biopsy. We analyzed 69 genes that cause hereditary cystic kidney disease and compared clinicopathologic findings between patients with and without pathogenic mutations in NPH-causing genes.
resultsSeven of 18 patients had pathogenic NPH-causing mutations in
conclusionsIn adult patients with NPH, thick TBM duplication was the specific finding. Our analysis also suggested that older patients tended to have no pathogenic mutations, even when they were suspected to have NPH by renal biopsy. These findings could be the novel clinical clue for the diagnosis of NPH in adult patients.
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