title: Families with Wilson's disease in subsequent generations: clinical and genetic analysis.
abstract: BACKGROUND
  Wilson's disease is an inherited autosomal recessive disorder of copper metabolism. The prevalence of Wilson's disease in most populations is approximately 1 in 30,000. The risk for offspring is 0.5%. The aim of this study was to establish the frequency of disease among offspring of a cohort of Wilson's disease patients.
  
  
  METHODS
  In February 2014, our registry included 760 cases of diagnosed Wilson's disease. We selected families in which Wilson's disease was diagnosed in the proband's offspring.
  
  
  RESULTS
  Between 1957 and 2014, 1,050 relatives of affected members were screened. Wilson's disease in subsequent generations was observed in nine non-consanguineous families, with 12 affected offspring from nine probands.
  
  
  CONCLUSIONS
  We detected a higher (4.08%) than expected (0.5%) frequency of Wilson's disease among proband offspring, which is in accordance with a recent genetic study in the United Kingdom that suggested a higher WD prevalence in the European population.
authors.affiliation: 2nd Department of Neurology, Institute of Psychiatry and Neurology, Warsaw, Poland.
authors.forename: Karolina
authors.initials: K
authors.lastname: Dzieżyc
authors.forename: Tomasz
authors.initials: T
authors.lastname: Litwin
authors.forename: Grzegorz
authors.initials: G
authors.lastname: Chabik
authors.forename: Karolina
authors.initials: K
authors.lastname: Gramza
authors.forename: Anna
authors.initials: A
authors.lastname: Członkowska
mesh_terms: D002570:Ceruloplasmin / Q000494:pharmacology; D003300:Copper / Q000494:pharmacology; D005190:Family; D005260:Female; D020022:Genetic Predisposition to Disease; D005820:Genetic Testing; D006527:Hepatolenticular Degeneration / Q000453:epidemiology / Q000235:genetics*; D006801:Humans; D008297:Male; D015995:Prevalence; D006113:United Kingdom
chemical_list: D003300:Copper; D002570:Ceruloplasmin
keywords: Wilson's disease; consecutive generations; family screening