Gender differences in Wilson's disease

Litwin, Tomasz; Gromadzka, Grażyna; Członkowska, Anna

doi:10.1016/j.jns.2011.08.028

Cited by 122 publications

(91 citation statements)

References 24 publications

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“…Mak et al detected three p.r778l carriers in 660 unrelated hong Kong Chinese subjects, estimating the incidence rate to be 1/5,400 21 . Mak's results suggested that Wd is the most common genetic disease involving the liver and nervous system in east asia 26 . because this study was limited to a single region within anhui province, our results do not yet adequately reflect the actual situation of the Wd morbidity in the Chinese han population.…”

Section: Discussionmentioning

confidence: 99%

Wilson Disease in the South Chinese Han Population

Cheng¹,

Wang

Hu³

et al. 2014

Can. J. Neurol. Sci.

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Wilson disease (Wd), also known as hepatolenticular degeneration (hld), is an autosomal recessive genetic disorder involving disruption of copper metabolism. Wilson disease is caused by mutations in the ATP7B gene on chromosome 13q14.3 encoding a p-type copper transporting adenosine triphosphate (atp) enzyme. the mutations of ATP7B gene leads to obstacles in bile excretion of copper in the liver and to obstacles in combination of copper with ceruloplasmin. it also causes the emergence of characteristic biochemical changes, including decreased ceruloplasmin (Cp) levels in the serum, increased copper content in the liver, and increased 24-hour urinary copper level. due to excessive deposition of copper in the liver, brain, kidney, cornea, and other tissues and organs, the main clinical ABSTRACT: Purpose: to prospectively investigate the incidence and prevalence of Wilson disease (Wd) in Chinese han population in anhui province, to analyze the genetic mutations in individuals with Wd, and to provide basic epidemiological data regarding Wd in this Chinese han population. Methods: between november 2008 and June 2010, individuals aged from 7 to 75 years were screened for the cornea K-f ring in both eyes using slit lamp examination and random sampling methods based on age stratification and cluster level 1. the participants were from anhui province's hanshan County, Jinzhai County, and lixin County. the clinical manifestations of the brain, liver, kidney, skin, and other organs in each individual were also determined. individuals with positive K-f rings and clinical manifestations indicative of Wd underwent copper biochemistry evaluations, abdominal ultrasound testing, and ATP7B gene mutation screening to confirm or exclude the diagnosis of Wd. Results: of 153,370 individuals investigated in this study, nine were diagnosed with Wd. in these Wd individuals, three cases had neurological symptoms, one has hepatic symptoms, one was hepatic and neurological combined, and the other four cases were presymptomatic. of the eight individuals in whom genetic mutations were detected, seven individuals had mutations in the ATP7B gene. the other individual had no ATP7B gene mutations but her copper biochemical test results met the diagnostic criteria for Wd. the incidence and prevalence of Wd in this population were approximately 1.96/100,000 and 5.87/100,000 respectively. Conclusion: the Chinese han population had a higher average prevalence of Wd than the populations of the united States or europe. Chez ces individus atteints de la MW, trois présentaient des manifestations neurologiques, un présentait des manifestations hépatiques, un présentait des manifestations hépatiques et neurologiques et les quatre autres étaient présymptomatiques. parmi les 8 individus chez qui des mutations génétiques ont été détectées, 7 avaient des mutations du gène atp7b. l'autre individu n'avait pas de mutation du gène atp7b mais ses résultats biochimiques pour le dosage du cuivre rencontraient les critères diagnostiques de la MW. l'incidence et la pr...

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Section: Discussionmentioning

confidence: 99%

Wilson Disease in the South Chinese Han Population

Cheng¹,

Wang

Hu³

et al. 2014

Can. J. Neurol. Sci.

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“…3) ataxia 4) dystonia is the most severe neurologic presentation of WD, and occurs in almost 10-30% of patients presenting as focal (risus sardonicus, oro-facial dystonia, limb dystonia), segmental (trunk dystonia) or even generalized 25 ( Figure 2)…”

Section: Neurological Manifestation Of Wilson Diseasementioning

confidence: 99%

Encephalopathy in Wilson Disease: Copper Toxicity or Liver Failure?

Ferenci

Litwin

Seniów

et al. 2015

Journal of Clinical and Experimental Hepatology

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“…Laboratory examinations included ultrasound examinations of the liver and spleen, gastroscopy, and assessments of aminotransferases, alkaline phosphatase, bilirubin, INR, and albumen that were available from medical history and records. The evaluation of neuropsychiatric symptoms and signs was also based on a detailed questionnaire addressing salivation, dysphagia, speech, writing and gait disturbances, involuntary movements, adynamia, epileptic seizures, mood disorders, anxiety, and cognitive impairment (Litwin et al 2012a).…”

Section: Methodsmentioning

confidence: 99%

“…WD is associated with a wide spectrum of symptoms (hepatic, neurological, psychiatric, and others) as well as great variability in clinical presentation and outcome (Roberts and Schilsky 2008;Ala et al 2007;Ferenci et al 2003Ferenci et al , 2007Schilsky et al 1994). Although these differences remain largely unexplained, several factors are known to impact clinical presentation of WD, including gender (Schilsky et al 1994;Litwin et al 2012a) and genotype (Stapelbroek et al 2004;Gromadzka et al 2005Gromadzka et al , 2006. It is also suspected that WD presentation may be influenced by polymorphisms in the genes encoding prion-related protein, methylenetetrahydrofolate reductase, interleukin-1 receptor antagonist, and apolipoprotein-E Gromadzka et al 2011a, b;Schiefermeier et al 2000;Litwin et al 2012b).…”

Section: Introductionmentioning

confidence: 99%