Wilson’s disease: Experience of a reference center in Colombia
DOI:
https://doi.org/10.22516/25007440.593Keywords:
Hepatolenticular degeneration, Cooper-transporting ATPases, Liver cirrhosis, Liver failure, Acute, ATP7B protein, human, Basal Ganglia DiseasesAbstract
Introduction: Wilson’s disease is a heterogeneous disorder caused by mutations in the ATP7B gene. Its clinical presentation is variable in hepatic and neuropsychiatric phenotypes. The aim of this study is to describe a retrospective cohort of patients.
Materials and methods: A descriptive retrospective study was carried out in patients treated at the Hospital Pablo Tobón Uribe from January 2004 to September 2017.
Results: 27 patients were reported, 17 men and 10 women. The mean follow-up time was 2.18 years. 40 % of the patients had neurological symptoms, 29 % psychiatric symptoms, and 85 % hepatic impairment. Lab tests showed that 85 % had low ceruloplasmin and 55 % had increased urinary copper. In cases that underwent liver biopsy, 7 had special copper colorations. Neuroimaging revealed that 84 % had findings suggestive of Wilson’s disease and a pathogenic genetic mutation was documented in 3 cases. During follow-up, 51 % improved clinically or biochemically, 11 % remained stable, and 18 % deteriorated. 88 % of cases survived at the end of follow-up.
Conclusions: This study is the largest retrospective cohort carried out in Colombia. The results are the basis for new population-based studies actively seeking this disease to describe its preclinical development and thus impact prognosis.
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