title: A clinical study of Wilson's disease: The experience of a single Egyptian Paediatric Hepatology Unit.
abstract: OBJECTIVE
  Most paediatric patients with Wilson's disease (WD) present with hepatic manifestations, but some may have neurologic or psychiatric features. Our aim was to define the clinical, biochemical features and the outcome of therapy of a group of Egyptian children diagnosed with WD.
  
  
  METHODS
  The study was carried out at the Paediatric Hepatology Unit at Cairo University Children's Hospital, Egypt; 54 patients were diagnosed with WD from 1996 to 2009. The diagnosis was based on low serum ceruloplasmin levels, increased urinary copper concentrations before or after D-penicillamine challenge and/or the presence of Kayser-Fleischer (K-F) rings.
  
  
  RESULTS
  The clinical presentation was as follows: hepatic presentation in 33 patients (61%), hepato-neurologic 3 (5.5%), neurologic 5 (9.3%) and presymptomatic 13 (24%). Twelve couples had more than one affected sib. Increased urinary copper concentrations before or after D-penicillamine challenge was found in all patients, low serum ceruloplasmin in 97% and K-F rings in 31.5%. All patients were treated with penicillamine and zinc sulphate except one presymptomatic case who was treated with zinc sulphate only. Three patients underwent liver transplantation and eight patients died after a median duration of treatment of 6 months (1-36). The hepatic symptoms improved with treatment but the neurological symptoms remained stationary.
  
  
  CONCLUSIONS
  Clinical and biochemical assays remain the standard for diagnosis of WD. Penicillamine and zinc therapy can effectively treat WD with hepatic symptoms. Liver transplantation remains life saving for those with fulminant and end stage WD. Screening for presymptomatic sibs is of utmost importance.
authors: Pediatrics Department, Cairo University, Cairo, Egypt. hanaakaraksy@yahoo.com
authors: Hanaa
authors: H
authors: El-Karaksy
authors: Mona
authors: M
authors: Fahmy
authors: Mona S
authors: MS
authors: El-Raziky
authors: Manal
authors: M
authors: El-Hawary
authors: Rokaya
authors: R
authors: El-Sayed
authors: Nehal
authors: N
authors: El-Koofy
authors: Fatma
authors: F
authors: El-Mougy
authors: Ahmad
authors: A
authors: El-Hennawy
authors: Mortada
authors: M
authors: El-Shabrawi
mesh_terms: D000293:Adolescent; D015415:Biomarkers / Q000097:blood / Q000652:urine; D002570:Ceruloplasmin / Q000378:metabolism*; D002614:Chelating Agents / Q000627:therapeutic use; D002648:Child; D002675:Child, Preschool; D003300:Copper / Q000652:urine*; D003937:Diagnosis, Differential; D004534:Egypt; D005260:Female; D005500:Follow-Up Studies; D006527:Hepatolenticular Degeneration / Q000175:diagnosis* / Q000378:metabolism / Q000628:therapy; D006801:Humans; D008099:Liver / Q000378:metabolism / Q000473:pathology; D016031:Liver Transplantation / Q000379:methods*; D008297:Male; D010396:Penicillamine / Q000627:therapeutic use*; D012189:Retrospective Studies
chemical_list: D015415:Biomarkers; D002614:Chelating Agents; D003300:Copper; D002570:Ceruloplasmin; D010396:Penicillamine