FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W3138694548> ?p ?o ?g. }

• W3138694548 endingPage "1885" @default.
• W3138694548 startingPage "1879" @default.
• W3138694548 abstract "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." @default.
• W3138694548 created "2021-03-29" @default.
• W3138694548 creator A5017540743 @default.
• W3138694548 creator A5063245254 @default.
• W3138694548 creator A5063808760 @default.
• W3138694548 creator A5090515170 @default.
• W3138694548 date "2021-03-12" @default.
• W3138694548 modified "2023-10-17" @default.
• W3138694548 title "Genetic kidney diseases as an underrecognized cause of chronic kidney disease: the key role of international registry reports" @default.
• W3138694548 cites W1800162600 @default.
• W3138694548 cites W1934932849 @default.
• W3138694548 cites W1963623990 @default.
• W3138694548 cites W1965071252 @default.
• W3138694548 cites W1973154957 @default.
• W3138694548 cites W1997772259 @default.
• W3138694548 cites W2024751825 @default.
• W3138694548 cites W2034932295 @default.
• W3138694548 cites W2035415307 @default.
• W3138694548 cites W2038661007 @default.
• W3138694548 cites W2051718666 @default.
• W3138694548 cites W2051978340 @default.
• W3138694548 cites W2056870876 @default.
• W3138694548 cites W2063848155 @default.
• W3138694548 cites W2065013649 @default.
• W3138694548 cites W2079712925 @default.
• W3138694548 cites W2085346322 @default.
• W3138694548 cites W2100755512 @default.
• W3138694548 cites W2101590985 @default.
• W3138694548 cites W2121984048 @default.
• W3138694548 cites W2127411468 @default.
• W3138694548 cites W2146378413 @default.
• W3138694548 cites W2147626377 @default.
• W3138694548 cites W2149440145 @default.
• W3138694548 cites W2154317192 @default.
• W3138694548 cites W2164249826 @default.
• W3138694548 cites W2165019590 @default.
• W3138694548 cites W2227226708 @default.
• W3138694548 cites W2231672727 @default.
• W3138694548 cites W2275842420 @default.
• W3138694548 cites W2460847139 @default.
• W3138694548 cites W2599787879 @default.
• W3138694548 cites W2781519054 @default.
• W3138694548 cites W2789753965 @default.
• W3138694548 cites W2804228974 @default.
• W3138694548 cites W2893417477 @default.
• W3138694548 cites W2906428833 @default.
• W3138694548 cites W2947278243 @default.
• W3138694548 cites W2951101345 @default.
• W3138694548 cites W2956245605 @default.
• W3138694548 cites W3001645436 @default.
• W3138694548 cites W3025268411 @default.
• W3138694548 cites W3041995830 @default.
• W3138694548 cites W3043693295 @default.
• W3138694548 cites W3080192999 @default.
• W3138694548 cites W3082080695 @default.
• W3138694548 cites W3094667387 @default.
• W3138694548 cites W3115896985 @default.
• W3138694548 cites W3126449372 @default.
• W3138694548 doi "https://doi.org/10.1093/ckj/sfab056" @default.
• W3138694548 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/8323147" @default.
• W3138694548 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/34345410" @default.
• W3138694548 hasPublicationYear "2021" @default.
• W3138694548 type Work @default.
• W3138694548 sameAs 3138694548 @default.
• W3138694548 citedByCount "27" @default.
• W3138694548 countsByYear W31386945482021 @default.
• W3138694548 countsByYear W31386945482022 @default.
• W3138694548 countsByYear W31386945482023 @default.
• W3138694548 crossrefType "journal-article" @default.
• W3138694548 hasAuthorship W3138694548A5017540743 @default.
• W3138694548 hasAuthorship W3138694548A5063245254 @default.
• W3138694548 hasAuthorship W3138694548A5063808760 @default.
• W3138694548 hasAuthorship W3138694548A5090515170 @default.
• W3138694548 hasBestOaLocation W31386945481 @default.
• W3138694548 hasConcept C126322002 @default.
• W3138694548 hasConcept C134018914 @default.
• W3138694548 hasConcept C137627325 @default.
• W3138694548 hasConcept C142724271 @default.
• W3138694548 hasConcept C177713679 @default.
• W3138694548 hasConcept C187212893 @default.
• W3138694548 hasConcept C2778653478 @default.
• W3138694548 hasConcept C2779134260 @default.
• W3138694548 hasConcept C2780673598 @default.
• W3138694548 hasConcept C2781184683 @default.
• W3138694548 hasConcept C54847362 @default.
• W3138694548 hasConcept C555293320 @default.
• W3138694548 hasConcept C71924100 @default.
• W3138694548 hasConceptScore W3138694548C126322002 @default.
• W3138694548 hasConceptScore W3138694548C134018914 @default.
• W3138694548 hasConceptScore W3138694548C137627325 @default.
• W3138694548 hasConceptScore W3138694548C142724271 @default.
• W3138694548 hasConceptScore W3138694548C177713679 @default.
• W3138694548 hasConceptScore W3138694548C187212893 @default.
• W3138694548 hasConceptScore W3138694548C2778653478 @default.
• W3138694548 hasConceptScore W3138694548C2779134260 @default.
• W3138694548 hasConceptScore W3138694548C2780673598 @default.
• W3138694548 hasConceptScore W3138694548C2781184683 @default.
• W3138694548 hasConceptScore W3138694548C54847362 @default.

• next