【摘要】：Wilson病亦稱肝豆?fàn)詈俗冃?是臨床上較少見(jiàn)的內(nèi)源性銅代謝障礙性疾病,屬于常染色體隱性遺傳,若早期發(fā)現(xiàn)和及時(shí)治療,臨床正確治療可基本痊愈。目前藥物的生產(chǎn)和研發(fā)還是需要進(jìn)一步的推動(dòng),確定的基因診斷和精準(zhǔn)治療需要基礎(chǔ)和臨床醫(yī)學(xué)的進(jìn)一步的通力合作。
[Abstract]:Wilson disease, also known as hepatolenticular degeneration, is a rare endogenous copper metabolic disorder, which belongs to autosomal recessive inheritance. If early detection and timely treatment, clinical correct treatment can be basically cured. At present, the production and development of drugs need to be further promoted, and the further cooperation of basic and clinical medicine is required for the definitive gene diagnosis and accurate treatment.
【作者單位】： 上海交通大學(xué)醫(yī)學(xué)院附屬同仁醫(yī)院神經(jīng)科;南京醫(yī)科大學(xué)臨床醫(yī)學(xué)院;
【基金】：國(guó)家自然基金資助項(xiàng)目(編號(hào):81410308009)
【分類號(hào)】：R742.4

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