ReviewClinical kidney journal2021
Genetic kidney diseases as an underrecognized cause of chronic kidney disease: the key role of international registry reports.
Review in Clinical kidney journal, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 44 papers.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
44 citing papers in PubMed, 64 citations in OpenAlex.
- Clinical impact of genetic testing in inherited kidney diseases.Clinical kidney journal · 2026Article
- A dual-organ genetic interplay between sensorineural hearing loss and kidney disease: an update for clinicians.Pediatric nephrology (Berlin, Germany) · 2026Review
- Chronic Kidney Disease in Children with Suspected Genetic Etiology: Diagnostic Yield and Clinical Implications.Journal of personalized medicine · 2026Article
- Multifactorial chronic kidney disease and the kidney capacity-workload balance.Nature reviews. Nephrology · 2026Review
- Identification of QTLs and genes regulating panicle number through genome-wide association studies inFrontiers in plant science · 2026Article
- Diagnostic Yield and Clinical Impact of a Small Genetic Panel for Kidney Disease: A Multicenter, Retrospective European Study.Clinical genetics · 2026Observational
- Genetic etiology of inherited kidney diseases in egyptian patients: next generation sequencing identifies six novel variants.Molecular and cellular pediatrics · 2025Article
- Inherited kidney disease and CAKUT are common causes of kidney failure requiring kidney replacement therapy: an ERA Registry study.Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association · 2025Article
- Extrarenal Clinical Features are Reported for Most Genes Implicated in Genetic Kidney Disease.Kidney international reports · 2025Article
- Kidney disease and reproductive health.Nature reviews. Nephrology · 2025Review
- CRISPR-Cas9 system in autosomal dominant polycystic kidney disease: a comprehensive review.Childhood kidney diseases · 2025Review
- Gene Editing: An Effective Tool for the Future Treatment of Kidney Disease.Journal of inflammation research · 2025Review
- Clinical Implementation of Nephrologist-Led Genomic Testing for Glomerular Diseases in Singapore: Rationale and Protocol.American journal of nephrology · 2025Article
- Advancing Genetic Testing in Kidney Diseases: Report From a National Kidney Foundation Working Group.American journal of kidney diseases : the official journal of the National Kidney Foundation · 2024Review
- Monogenic Kidney Diseases in Adults With Chronic Kidney Disease (CKD).Deutsches Arzteblatt international · 2024Review
- The emerging role of clinical genetics in pediatric patients with chronic kidney disease.Pediatric nephrology (Berlin, Germany) · 2024Article
- Linking Basement Membrane and Slit Diaphragm in Drosophila Nephrocytes.Journal of the American Society of Nephrology : JASN · 2024Article
- Genome editing and kidney health.Clinical kidney journal · 2024Review
- Genetic Diagnosis of Adult Hemodialysis Patients With Unknown Etiology.Kidney international reports · 2024Article
- People with genetic kidney diseases on kidney replacement therapy have different clinical outcomes compared to people with other kidney diseases.Scientific reports · 2024Article
Corrections and comments
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Authors and funding
4 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Inherited kidney diseases (IKDs) are among the leading causes of early-onset chronic kidney disease (CKD) and are responsible for at least 10-15% of cases of kidney replacement therapy (KRT) in adults. Paediatric nephrologists are very aware of the high prevalence of IKDs among their patients, but this is not the case for adult nephrologists. Recent publications have demonstrated that monogenic diseases account for a significant percentage of adult cases of CKD. A substantial number of these patients have received a non-specific/incorrect diagnosis or a diagnosis of CKD of unknown aetiology, which precludes correct treatment, follow-up and genetic counselling. There are a number of reasons why genetic kidney diseases are difficult to diagnose in adulthood: (i) adult nephrologists, in general, are not knowledgeable about IKDs; (ii) existence of atypical phenotypes; (iii) genetic testing is not universally available; (iv) family history is not always available or may be negative; (v) lack of knowledge of various genotype-phenotype relationships and (vi) conflicting interpretation of the pathogenicity of many sequence variants. Registries can contribute to visualize the burden of IKDs by regularly grouping all IKDs in their annual reports, as is done for glomerulonephritis or interstitial diseases, rather than reporting only cystic disease and hiding other IKDs under labels such as 'miscellaneous' or 'other'. Any effort to reduce the percentage of patients needing KRT with a diagnosis of 'nephropathy of unknown etiology' or an unspecific/incorrect diagnosis should be encouraged as a step towards precision nephrology. Genetic testing may be of value in this context but should not be used indiscriminately, but rather on the basis of a deep knowledge of IKDs.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.