FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W4280639469> ?p ?o ?g. }

• W4280639469 endingPage "e371" @default.
• W4280639469 startingPage "e370" @default.
• W4280639469 abstract "A 43-year-old man presented with a 4-month history of abdominal bloating, loss of appetite and 5 kg weight loss. He was previously fit and well, with no history of alcohol or drug ingestion, and no prior blood transfusion. Clinical examination revealed pigmentation around the cornea of both eyes, consistent with Kayser-Fleischer (KF) rings (Figure A), but there were no other clinical features of chronic liver disease. On abdominal examination there was no organomegaly. He had no neurological deficits. Ultrasound and computed tomography (CT) scans of the abdomen demonstrated a shrunken liver with features of cirrhosis, portal hypertension, minimal ascites, and splenomegaly. Initial laboratory results were unremarkable, with normal full blood count, electrolytes and renal function, liver function, and prothrombin time. Serum ferritin, alpha-fetoprotein, viral serology, and an autoimmune liver screen were also unremarkable. Further laboratory evaluation showed a low serum ceruloplasmin level (<9.3 mg/dL; reference range [RR] 20-60), low serum copper (23.66 µg/dL; RR 70-140), and elevated 24-h urinary copper excretion (88 µg/d; RR 3-50). An ocular slit-lamp examination confirmed the presence of copper deposition in Descemet membrane (Figure B). A liver biopsy was performed, which revealed fibrosis (Figure C) with copper deposition (Figure D), confirming the diagnosis of Wilson disease. Magnetic resonance imaging of the brain was unremarkable. Genetic analysis of the ATP7B gene identified a known pathogenic homozygous missense variant in exon 13, c.3053c>T (p.Ala1018Val) and another homozygous missense variant of uncertain significance in exon 6, c.1883A>G (p.His628Arg). The patient was treated with 1000 mg/d of copper chelating therapy with penicillamine and zinc, with subsequent marked clinical improvement (including complete resolution of ascites) over the next months. Wilson disease is an autosomal recessive disorder of copper metabolism due to loss-of-function-mutations in the ATP7B gene that encodes a transmembrane copper-transporting ATPase, thereby resulting in defective copper excretion, and accumulation in the liver, brain, and other organs.1Członkowska A Litwin T Dusek P et al.Wilson disease.Nat Rev Dis Primers. 2018; 4: 21Crossref PubMed Scopus (232) Google Scholar,2Bandmann O Weiss KH Kaler SG. Wilson's disease and other neurological copper disorders.Lancet Neurol. 2015; 14: 103-113Abstract Full Text Full Text PDF PubMed Google Scholar A younger age at presentation is typical of Wilson disease,2Bandmann O Weiss KH Kaler SG. Wilson's disease and other neurological copper disorders.Lancet Neurol. 2015; 14: 103-113Abstract Full Text Full Text PDF PubMed Google Scholar with large studies (1,223 subjects) reporting that only 3.8% of people are diagnosed at >40 years of age, as occurred here.3Ferenci P Członkowska A Merle U et al.Late-onset Wilson's disease.Gastroenterology. 2007; 132: 1294-1298Abstract Full Text Full Text PDF PubMed Scopus (178) Google Scholar Interestingly, our patient exhibited no clinical or radiological features of central nervous system involvement. KF rings are reported in 50% of individuals with hepatic manifestations of Wilson disease, as observed in this case.4European Association for Study of Liver (EASL)EASL Clinical Practice Guidelines: Wilson's disease.J Hepatol. 2012; 56: 671-685Abstract Full Text Full Text PDF PubMed Scopus (680) Google Scholar However the absence of a KF ring does not exclude the diagnosis of Wilson disease.2Bandmann O Weiss KH Kaler SG. Wilson's disease and other neurological copper disorders.Lancet Neurol. 2015; 14: 103-113Abstract Full Text Full Text PDF PubMed Google Scholar The prognosis for treated Wilson disease is excellent, including in those with more advanced liver disease and, hence, the importance of considering the diagnosis even in older patients.1Członkowska A Litwin T Dusek P et al.Wilson disease.Nat Rev Dis Primers. 2018; 4: 21Crossref PubMed Scopus (232) Google Scholar The finding of more than 1 mutation in ATP7B is also consistent with a study, which had highlighted the importance of comprehensive gene analyses in suspected cases.5Coffey AJ Durkie M Hague S et al.A genetic study of Wilson's disease in the United Kingdom.Brain. 2013; 136: 1476-1487Crossref PubMed Scopus (212) Google Scholar" @default.
• W4280639469 created "2022-05-22" @default.
• W4280639469 creator A5015178970 @default.
• W4280639469 creator A5034918578 @default.
• W4280639469 creator A5041859725 @default.
• W4280639469 creator A5051668383 @default.
• W4280639469 creator A5066009511 @default.
• W4280639469 creator A5073106718 @default.
• W4280639469 creator A5079125745 @default.
• W4280639469 date "2022-09-01" @default.
• W4280639469 modified "2023-10-16" @default.
• W4280639469 title "Wilson Disease: Never Too Late . . ." @default.
• W4280639469 cites W1977221972 @default.
• W4280639469 cites W2004990115 @default.
• W4280639469 cites W2100625171 @default.
• W4280639469 cites W3212080551 @default.
• W4280639469 cites W4211041131 @default.
• W4280639469 doi "https://doi.org/10.1016/j.amjmed.2022.04.025" @default.
• W4280639469 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/35580721" @default.
• W4280639469 hasPublicationYear "2022" @default.
• W4280639469 type Work @default.
• W4280639469 citedByCount "2" @default.
• W4280639469 countsByYear W42806394692023 @default.
• W4280639469 crossrefType "journal-article" @default.
• W4280639469 hasAuthorship W4280639469A5015178970 @default.
• W4280639469 hasAuthorship W4280639469A5034918578 @default.
• W4280639469 hasAuthorship W4280639469A5041859725 @default.
• W4280639469 hasAuthorship W4280639469A5051668383 @default.
• W4280639469 hasAuthorship W4280639469A5066009511 @default.
• W4280639469 hasAuthorship W4280639469A5073106718 @default.
• W4280639469 hasAuthorship W4280639469A5079125745 @default.
• W4280639469 hasConcept C126322002 @default.
• W4280639469 hasConcept C142724271 @default.
• W4280639469 hasConcept C2775934546 @default.
• W4280639469 hasConcept C2777214474 @default.
• W4280639469 hasConcept C2777766500 @default.
• W4280639469 hasConcept C2779102576 @default.
• W4280639469 hasConcept C512861765 @default.
• W4280639469 hasConcept C71924100 @default.
• W4280639469 hasConcept C90924648 @default.
• W4280639469 hasConceptScore W4280639469C126322002 @default.
• W4280639469 hasConceptScore W4280639469C142724271 @default.
• W4280639469 hasConceptScore W4280639469C2775934546 @default.
• W4280639469 hasConceptScore W4280639469C2777214474 @default.
• W4280639469 hasConceptScore W4280639469C2777766500 @default.
• W4280639469 hasConceptScore W4280639469C2779102576 @default.
• W4280639469 hasConceptScore W4280639469C512861765 @default.
• W4280639469 hasConceptScore W4280639469C71924100 @default.
• W4280639469 hasConceptScore W4280639469C90924648 @default.
• W4280639469 hasIssue "9" @default.
• W4280639469 hasLocation W42806394691 @default.
• W4280639469 hasLocation W42806394692 @default.
• W4280639469 hasOpenAccess W4280639469 @default.
• W4280639469 hasPrimaryLocation W42806394691 @default.
• W4280639469 hasRelatedWork W2041427500 @default.
• W4280639469 hasRelatedWork W2057183040 @default.
• W4280639469 hasRelatedWork W2131226807 @default.
• W4280639469 hasRelatedWork W2393158688 @default.
• W4280639469 hasRelatedWork W2409853002 @default.
• W4280639469 hasRelatedWork W2742832822 @default.
• W4280639469 hasRelatedWork W2921112476 @default.
• W4280639469 hasRelatedWork W3032577974 @default.
• W4280639469 hasRelatedWork W3135212049 @default.
• W4280639469 hasRelatedWork W2147442459 @default.
• W4280639469 hasVolume "135" @default.
• W4280639469 isParatext "false" @default.
• W4280639469 isRetracted "false" @default.
• W4280639469 workType "article" @default.