title: Clinical presentations of Wilson disease among Polish children.
abstract: BACKGROUND
  Wilson disease (WD) may present from early childhood up to the eighth decade, presenting with variable hepatic and neuropsychiatric symptoms. Establishing the diagnosis is straightforward if the major clinical and laboratory features are present. However, clinical phenotypes are highly varied and early, proper diagnosis can be challenging.
  
  
  OBJECTIVE
  The aim of our study was to analyze clinical presentations and diagnostic tests of Polish pediatric patients with WD.
  
  
  METHODS
  We retrospectively analyzed medical history of 156 patients with confirmed diagnosis of WD treated at our Institute from 1996 till March 2016.
  
  
  RESULTS
  The mean age at onset of symptoms was 10.15±4.23 years of age. Hepatic presentation was the most common one (94.23%) with either liver failure (16.03%) or more frequently increased transaminases (78.2%). In 90.26% cases ceruloplasmin serum concentration was ≤0,2 g/l, in 51.93% patients basal urinary copper excretion was >100 μg/24 h. Mutation analysis was performed in 155 (99.36%) cases. The most common mutation was p.H1069Q.
  
  
  CONCLUSIONS
  Wilson disease can present with only significantly increased transaminases activity and hepatomegaly or liver failure, but neurological symptoms are very rare in children. Diagnostic approach is challenging due to wide spectrum of clinical presentations in a high variable degree of severity. Genetic screening is supportive, ceruloplasmin and urinary copper excretion are valuable tests in the majority of patients but do not allow to exclude WD.
authors.affiliation: Department of Gastroenterology, Hepatology, Nutritional Disorders and Pediatrics, The Children's Memorial Health Institute, Warsaw, Poland.
authors.forename: Magdalena
authors.initials: M
authors.lastname: Naorniakowska
authors.affiliation: Department of Gastroenterology, Hepatology, Nutritional Disorders and Pediatrics, The Children's Memorial Health Institute, Warsaw, Poland.
authors.forename: Maciej
authors.initials: M
authors.lastname: Dądalski
authors.affiliation: Department of Gastroenterology, Hepatology, Nutritional Disorders and Pediatrics, The Children's Memorial Health Institute, Warsaw, Poland.
authors.forename: Diana
authors.initials: D
authors.lastname: Kamińska
authors.affiliation: Department of Gastroenterology, Hepatology, Nutritional Disorders and Pediatrics, The Children's Memorial Health Institute, Warsaw, Poland.
authors.forename: Wojciech
authors.initials: W
authors.lastname: Jańczyk
authors.affiliation: Department of Pediatrics, Gastroenterology and Allergology, Medical University of Bialystok, Poland.
authors.forename: Dariusz
authors.initials: D
authors.lastname: Lebensztejn
authors.affiliation: Department of Pediatrics, Gastroenterology and Nutrition, Jagiellonian University Medical Collage, Cracow, Poland.
authors.forename: Krzysztof
authors.initials: K
authors.lastname: Fyderek
authors.affiliation: Department of Health Prophylaxis, Poznan University of Medical Sciences, Poland.
authors.forename: Jacek
authors.initials: J
authors.lastname: Wysocki
authors.affiliation: Department of Gastroenterology, Hepatology, Nutritional Disorders and Pediatrics, The Children's Memorial Health Institute, Warsaw, Poland, Fax: (+48 22) 815-73-82 e-mail: p.socha@czd.pl.
authors.forename: Piotr
authors.initials: P
authors.lastname: Socha
mesh_terms: D000251:Adenosine Triphosphatases / Q000097:blood*; D000293:Adolescent; D000367:Age Factors; D027682:Cation Transport Proteins / Q000097:blood*; D002570:Ceruloplasmin / Q000032:analysis; D002648:Child; D002675:Child, Preschool; D003300:Copper / Q000097:blood; D000073840:Copper-Transporting ATPases; D005260:Female; D006527:Hepatolenticular Degeneration / Q000097:blood* / Q000175:diagnosis*; D006801:Humans; D008099:Liver / Q000473:pathology*; D008111:Liver Function Tests; D008297:Male; D011044:Poland
chemical_list: D027682:Cation Transport Proteins; D003300:Copper; D002570:Ceruloplasmin; D000251:Adenosine Triphosphatases; D000073840:Copper-Transporting ATPases
keywords:  diagnosis;  early onset of disease;  mutation ; Wilson’s disease