Evaluation of diagnostic parameters of Wilson's disease in childhood.
BACKGROUND
Wilson's disease (WD) is an autosomal recessive disorder with variable clinical presentation. Its diagnosis depends on a combination of clinical and laboratory findings. We evaluated the sensitivity of various diagnostic tests in children with WD and high liver copper concentrations.


METHODS
Thirty-three children (6-15 years old, 19 male) with confirmed WD (hepatic copper >250 mcirog/g dry weight) were evaluated retrospectively. Eyes were examined with biomicroscope for Kayser-Fleischer rings and urinary copper content was determined in 30 patients. Serum ceruloplasmin levels were measured and liver tissue samples were stained with orcein in all.


RESULTS
All patients presented with hepatic disease. Four patients also had neurological involvement. Hepatic copper concentration was between 250 and 1200 microg/g. Eighteen patients had liver cirrhosis, 9 chronic hepatitis, and 6 had massive hepatic necrosis on liver biopsy or necropsy. The sensitivity of various tests evaluated was: 100% (30/30) for urinary copper excretion, 88% (29/33) for orcein staining on liver tissues, 82% (27/33) for ceruloplasmin levels, and 63% (19/30) for presence of Kayser-Fleischer ring. Kayser-Fleischer ring was present in all patients with neurological manifestations and in 58% of patients with only hepatic presentation.


CONCLUSIONS
24-hour urinary copper excretion seems to be the most sensitive test for diagnosis of WD, particularly when liver biopsy cannot be performed due to coagulation abnormalities.
Yüce
Aysel
A
Department of Pediatrics, Gastroenterology Unit, Hacettepe University, Ihsan Dogramaci Children's Hospital, Ankara, Turkey. ayuce@hacettepe.edu.tr
Koçak
Nurten
N
Demir
Hülya
H
Gürakan
Figen
F
Ozen
Hasan
H
Saltik
Inci Nur
IN
Ozçay
Figen
F
D000293:Adolescent; D002570:Ceruloplasmin / Q000032:analysis; D002648:Child; D003300:Copper / Q000032:analysis; D003886:Descemet Membrane / Q000737:chemistry; D005260:Female; D006527:Hepatolenticular Degeneration / Q000175:diagnosis* / Q000473:pathology; D006801:Humans; D008099:Liver / Q000473:pathology; D008297:Male; D012189:Retrospective Studies
D003300:Copper; D002570:Ceruloplasmin