P0215 HYALURONAN: A USEFUL BIOCHEMICAL MARKER IN DIAGNOSIS OF BILIARY ATRESIA

ations, hemolysis of undetermined cause, or some combination of these, specially in the adolescent patient.Aim: outlining the most frequent clinical presentation forms of WD, diagnosed according to international criteria, conformed by the values of the variables: serum copper (Cu), blood ceruloplasmin (Cp), baseline urine copper (uCu) and copper in hepatic tissue (tCu) and liver histology results.Were also studied some clinical and epidemiological characteristics, the time of evolution of the disease, and the mortality in the studied period.Methods: The files of the Biochemistry Laboratories of the National Reference Centre for WD were reviewed for the last 25 years and it was carried out a descriptive study.Clinical histories were reviewed to know the clinical presentation forms, the biochemical variables Cu, Cp, uCu, tCu, liver histology and the clinical and epidemiological characteristics of the patients diagnosed: age, sex, colour of the skin, WD family history, hepatic diseases family history, consanguinity, clinical form and presence of KF ring, time of evolution, and mortality.The biochemical variables and these clinical and epidemiological characteristics confirmed the diagnosis in 63 patients, all treated with D-Penicillamine and elevated uCu excretion as control of the treatment.Results: 50% were between 10 and 14y. of age, with a slight predominance of the male 54%, 94 % white race.Family history of consanguinity 3%, of WD 31,7%, and of chronic hepatic diseases 11,1%.The most frequent clinical presentation forms were: elevated aminotranferases of non determined cause 55%, family screening 14,2%, prolonged acute hepatitis 9,5%, hepatic cirrhosis 7,9%, chronic hepatitis 6,3%.The clinical form was hepatic in 60 (94%) and mixed in 3 (6%).Mortality was of 3 patients 6,3%.KF rings were observed in 2 (3%).The mean age at diagnosis was 9y.The mean time of evolution was 8y.Cu was pathological 55,5%, Cp was pathological 84,2%, uCu and tCu were pathological 100%.Liver histology results were classified in severe lesions (hepatic steatosis with or with out fibrosis, chronic hepatitis and hepatic cirrhosis) with 46 (73%), and in light lesions (minimal changes or normal) with 17 (27%).Conclusion: Taking into account the observed broad clinical spectrum in the presentation of WD, and the importance of its early diagnosis, it is necessary a high level of suspicion.In the presence of any hepatic disease of undetermined cause, the possibility of WD must not be forgotten.