“Not so rare” Wilson disease

Controversies and Variation in Diagnosing and Treating Children With Wilson Disease

“…Screening practices in first-degree relatives is another example of discrepancy between the practices of survey participants and current guidelines: one fourth of respondents would not screen a 4-year-old child whose mother was previously diagnosed with WD. Recommendations include screening at age 1 to 2 years by testing aminotransferases and ceruloplasmin and testing basal 24-hour copper urine excretion as soon as it can be accomplished reliably (2,4,13,14).…”

Importância da detecção de mutações do gene ATP7B para o diagnóstico da doença de Wilson

“…No hepatócito desliga-se das proteínas transportadoras e é introduzido ao citosol pela proteína transportadora CTR1, situada no polo sinusoidal dessa célula. No citoplasma é ligado a proteínas citoprotetoras (metalotioneina, glutationa) e à chaperona Atox 1, que o transporta até a proteína ATP7B, localizada no complexo de Golgi do hepatócito (Tao & Gitlin, 2003;Roberts;Sarkar, 2008).…”