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[威尔逊氏病]

[Wilson's disease].

作者信息

Ławniczak Małgorzata, Raszeja-Wyszomirska Joanna, Starzyńska Teresa

机构信息

Pomorska Akademia Medyczna w Szczecinie: Klinika Gastroenterologii.

出版信息

Pol Merkur Lekarski. 2010 Aug;29(170):125-7.

Abstract

Wilson's disease is caused by a P-type ATP-ase gene mutations with reduced biliary copper excretion and accumulation copper in the liver and other tissues. Clinical symptoms can be heterogeneous but in many cases on the first stage the only abnormalities is elevation of aminotransferase activity. In some cases the first fatal symptom of disease is acute liver failure, therefore early diagnosis and treatment is essential. We present an actual recommendations for diagnosis and treatment of patients with Wilson's disease.

摘要

威尔逊病由P型ATP酶基因突变引起,导致胆汁铜排泄减少,铜在肝脏和其他组织中蓄积。临床症状可能多种多样,但在许多情况下,疾病初期唯一的异常是转氨酶活性升高。在某些情况下,该病的首个致命症状是急性肝衰竭,因此早期诊断和治疗至关重要。我们提出了关于威尔逊病患者诊断和治疗的实际建议。

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