Literature DB >> 24303094

Diagnostic challenges of Wilson's disease presenting as acute pancreatitis, cholangitis, and jaundice.

Elchanan Nussinson1, Azmi Shahbari, Fahmi Shibli, Elena Chervinsky, Philippe Trougouboff, Arie Markel.   

Abstract

Wilson's disease is a rare disorder of copper transport in hepatic cells, and may present as cholestatic liver disease; pancreatitis and cholangitis are rarely associated with Wilsons's disease. Moreover, cases of Wilson's disease presenting as pigmented gallstone pancreatitis have not been reported in the literature. In the present report, we describe a case of a 37-year-old man who was admitted with jaundice and abdominal pain. The patient was diagnosed with acute pancreatitis, cholangitis, and obstructive jaundice caused by pigmented gallstones that were detected during retrograde cholangiopancreatography. However, because of his long-term jaundice and the presence of pigmented gallstones, the patient underwent further evaluation for Wilson's disease, which was subsequently confirmed. This patient's unique presentation exemplifies the overlap in the clinical and laboratory parameters of Wilson's disease and cholestasis, and the difficulties associated with their differentiation. It suggests that Wilson's disease should be considered in patients with pancreatitis, cholangitis, and severe protracted jaundice caused by pigmented gallstones.

Entities:  

Keywords:  Cholangitis; Cholestasis; Obstructive jaundice; Pancreatitis; Wilson’s disease

Year:  2013        PMID: 24303094      PMCID: PMC3847949          DOI: 10.4254/wjh.v5.i11.649

Source DB:  PubMed          Journal:  World J Hepatol


  33 in total

1.  26-Year-old man with rapidly progressive jaundice and anemia.

Authors:  John T Maple; Scott C Litin
Journal:  Mayo Clin Proc       Date:  2002-01       Impact factor: 7.616

2.  Gall stones, G-6PD deficiency and Wilson's disease.

Authors:  R Singh; A Sibal; S K Jain
Journal:  Indian J Pediatr       Date:  2002-07       Impact factor: 1.967

3.  Haemolytic anaemia as a first sign of Wilson's disease.

Authors:  S Balkema; M E Hamaker; H P J Visser; G D N Heine; U Beuers
Journal:  Neth J Med       Date:  2008-09       Impact factor: 1.422

4.  Wilson's disease: gall stone copper following liver transplantation.

Authors:  J M Walshe
Journal:  Ann Clin Biochem       Date:  1998-09       Impact factor: 2.057

5.  [2 cases of Wilson's disease with hepatic precession in biliary lithiasis].

Authors:  R Dupuy; J Vallin; F Fabiani
Journal:  Rev Int Hepatol       Date:  1969

6.  Atypical presentation of Wilson disease.

Authors:  Sheetal Wadera; Margret S Magid; Mark McOmber; David Carpentieri; Tamir Miloh
Journal:  Semin Liver Dis       Date:  2011-09-07       Impact factor: 6.115

Review 7.  Wilson disease: pathogenesis and clinical considerations in diagnosis and treatment.

Authors:  Richard Rosencrantz; Michael Schilsky
Journal:  Semin Liver Dis       Date:  2011-09-07       Impact factor: 6.115

8.  Mimicry of acute cholecystitis from Wilson's disease.

Authors:  S K Y Chang; C L M Chan; R Q Yu; C T Wai
Journal:  Singapore Med J       Date:  2009-03       Impact factor: 1.858

9.  Correlation of ATP7B genotype with phenotype in Chinese patients with Wilson disease.

Authors:  Xiao-Qing Liu; Ya-Fen Zhang; Tze-Tze Liu; Kwang-Jen Hsiao; Jian-Ming Zhang; Xue-Fan Gu; Ke-Rong Bao; Li-Hua Yu; Mei-Xian Wang
Journal:  World J Gastroenterol       Date:  2004-02-15       Impact factor: 5.742

10.  New mutations in the Wilson disease gene, ATP7B: implications for molecular testing.

Authors:  Lisa Prat Davies; Georgina Macintyre; Diane W Cox
Journal:  Genet Test       Date:  2008-03
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  2 in total

1.  Metabolomics profiles of patients with Wilson disease reveal a distinct metabolic signature.

Authors:  Gaurav V Sarode; Kyoungmi Kim; Dorothy A Kieffer; Noreene M Shibata; Tomas Litwin; Anna Czlonkowska; Valentina Medici
Journal:  Metabolomics       Date:  2019-03-12       Impact factor: 4.290

2.  Quantitative MR in Paediatric Patients with Wilson Disease: A Case Series Review.

Authors:  Kamil Janowski; Elizabeth Shumbayawonda; Matt Kelly; Carlos Ferreira; Maciej Pronicki; Wieslawa Grajkowska; Magdalena Naorniakowska; Piotr Pawliszak; Sylwia Chełstowska; Elżbieta Jurkiewicz; Rajarshi Banerjee; Piotr Socha
Journal:  Children (Basel)       Date:  2022-04-25
  2 in total

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