Matches in SemOpenAlex for { <https://semopenalex.org/work/W4246088416> ?p ?o ?g. }
Showing items 1 to 70 of
70
with 100 items per page.
- W4246088416 endingPage "239" @default.
- W4246088416 startingPage "238" @default.
- W4246088416 abstract "Familial Mediterranean fever (FMF, OMIM 249100) is the most common hereditary fever, resulting from mutations in MEFV. FMF is characterized by episodic febrile attacks and polyserositis. Renal AA-amyloidosis is a major complication, which often leads to end-stage renal disease in untreated patients. The data about the renal AA-amyloidosis secondary to FMF are scarce in North African countries and non-existent in Algeria. We aimed to investigate the MEFV mutations associated with this complication in an Algerian patient cohort. Molecular analysis included 28 unrelated Algerian FMF patients with ascertained amyloidosis, 23 of them were symptomatic and 5 were asymptomatic. For this study, a group of 20 FMF patients without renal amyloidosis were selected as controls according to their age, disease onset and disease duration. The mutations were detected by sequencing exon 10 of MEFV. A total of 87.5% (49/56) mutant alleles were identified in 27/28 analyzed patients; p.M694I was predominant and appeared with an allele frequency of 62.5%, followed by p.M694V (17.85%), p.M680I (5.35%) and p.I692Del (1.78%). Remarkably, only p.M694I mutation was observed among the asymptomatic patients. The M694I/M694I genotype, identified in 14/27 (52%) patients, was significantly associated with the development of amyloidosis compared to group of controls (p = 0.022). This study did not link the M694V/M694V genotype to the renal complication despite the fact that it has been observed only in the patients with amyloidosis (3/27; 11%) (p = 0.349). The association of other identified genotypes to this complication was statistically insignificant. The progression of amyloidosis led to end-stage renal disease in 14 patients with 6 deaths. This study shows that p.M694I homozygosity is a potential genetic risk factor for the development of renal AA-amyloidosis in Algerian FMF patients." @default.
- W4246088416 created "2022-05-12" @default.
- W4246088416 creator A5039641716 @default.
- W4246088416 creator A5073490933 @default.
- W4246088416 creator A5056691290 @default.
- W4246088416 date "2017-05-01" @default.
- W4246088416 modified "2023-10-16" @default.
- W4246088416 title "Amiloidosis primaria" @default.
- W4246088416 doi "https://doi.org/10.1016/j.rce.2016.12.006" @default.
- W4246088416 hasPublicationYear "2017" @default.
- W4246088416 type Work @default.
- W4246088416 citedByCount "0" @default.
- W4246088416 crossrefType "journal-article" @default.
- W4246088416 hasAuthorship W4246088416A5039641716 @default.
- W4246088416 hasAuthorship W4246088416A5056691290 @default.
- W4246088416 hasAuthorship W4246088416A5073490933 @default.
- W4246088416 hasConcept C104317684 @default.
- W4246088416 hasConcept C126322002 @default.
- W4246088416 hasConcept C135763542 @default.
- W4246088416 hasConcept C2777007455 @default.
- W4246088416 hasConcept C2777910003 @default.
- W4246088416 hasConcept C2779134260 @default.
- W4246088416 hasConcept C2779537928 @default.
- W4246088416 hasConcept C2779951007 @default.
- W4246088416 hasConcept C2781145326 @default.
- W4246088416 hasConcept C2994225774 @default.
- W4246088416 hasConcept C501734568 @default.
- W4246088416 hasConcept C54355233 @default.
- W4246088416 hasConcept C71924100 @default.
- W4246088416 hasConcept C72563966 @default.
- W4246088416 hasConcept C81182388 @default.
- W4246088416 hasConcept C86803240 @default.
- W4246088416 hasConcept C90924648 @default.
- W4246088416 hasConceptScore W4246088416C104317684 @default.
- W4246088416 hasConceptScore W4246088416C126322002 @default.
- W4246088416 hasConceptScore W4246088416C135763542 @default.
- W4246088416 hasConceptScore W4246088416C2777007455 @default.
- W4246088416 hasConceptScore W4246088416C2777910003 @default.
- W4246088416 hasConceptScore W4246088416C2779134260 @default.
- W4246088416 hasConceptScore W4246088416C2779537928 @default.
- W4246088416 hasConceptScore W4246088416C2779951007 @default.
- W4246088416 hasConceptScore W4246088416C2781145326 @default.
- W4246088416 hasConceptScore W4246088416C2994225774 @default.
- W4246088416 hasConceptScore W4246088416C501734568 @default.
- W4246088416 hasConceptScore W4246088416C54355233 @default.
- W4246088416 hasConceptScore W4246088416C71924100 @default.
- W4246088416 hasConceptScore W4246088416C72563966 @default.
- W4246088416 hasConceptScore W4246088416C81182388 @default.
- W4246088416 hasConceptScore W4246088416C86803240 @default.
- W4246088416 hasConceptScore W4246088416C90924648 @default.
- W4246088416 hasIssue "4" @default.
- W4246088416 hasLocation W42460884161 @default.
- W4246088416 hasOpenAccess W4246088416 @default.
- W4246088416 hasPrimaryLocation W42460884161 @default.
- W4246088416 hasRelatedWork W1529054707 @default.
- W4246088416 hasRelatedWork W1567730441 @default.
- W4246088416 hasRelatedWork W1780699898 @default.
- W4246088416 hasRelatedWork W1921748373 @default.
- W4246088416 hasRelatedWork W1993407279 @default.
- W4246088416 hasRelatedWork W2068396140 @default.
- W4246088416 hasRelatedWork W2077490776 @default.
- W4246088416 hasRelatedWork W2089618162 @default.
- W4246088416 hasRelatedWork W2327939571 @default.
- W4246088416 hasRelatedWork W3181923080 @default.
- W4246088416 hasVolume "217" @default.
- W4246088416 isParatext "false" @default.
- W4246088416 isRetracted "false" @default.
- W4246088416 workType "article" @default.