Durand F, Bernuau J, Giostra E, Mentha G, Shouval D, Degott C, Benhamou J P, Valla D
Service d'Hépatologie, Hôpital Beaujon, Clichy, France.
Gut. 2001 Jun;48(6):849-52. doi: 10.1136/gut.48.6.849.
Wilson's disease, heralded by severe hepatic insufficiency, is a rare disorder for which emergency liver transplantation is considered to be the only effective therapy.
To report the features of Wilson's disease with severe hepatic insufficiency in a series of 17 patients and, during the second period of the study, to assess the efficacy of a policy consisting of early administration of D-penicillamine.
Seventeen consecutive patients with Wilson's disease were studied. During the first period of the study (up to 1979), none of the patients received D-penicillamine. During the second period (after 1979), all patients without encephalopathy at admission received D-penicillamine.
The four patients observed during the first period who did not have encephalopathy at admission and did not receive D-penicillamine progressed to encephalopathy and died. Among the 13 consecutive patients observed during the second period, two patients with encephalopathy at admission did not receive D-penicillamine and were transplanted. The 11 remaining patients all received D-penicillamine. Ten of these patients survived without the need for transplantation and returned to compensated liver disease without liver insufficiency. In one patient, liver insufficiency progressed and transplantation had to be performed.
In most patients with Wilson's disease heralded by severe hepatic insufficiency and without encephalopathy at admission, early administration of D-penicillamine was associated with survival without transplantation. These results suggest the importance of early diagnosis of this form of Wilson's disease before the onset of encephalopathy, and favour early administration of D-penicillamine which could avoid the need for transplantation in most cases.
以严重肝功能不全为特征的威尔逊病是一种罕见疾病，紧急肝移植被认为是唯一有效的治疗方法。
报告一系列17例严重肝功能不全的威尔逊病患者的特征，并在研究的第二阶段评估早期给予D-青霉胺这一治疗策略的疗效。
对17例连续的威尔逊病患者进行了研究。在研究的第一阶段（截至1979年），所有患者均未接受D-青霉胺治疗。在第二阶段（1979年之后），所有入院时无脑病的患者均接受了D-青霉胺治疗。
在第一阶段观察的4例入院时无脑病且未接受D-青霉胺治疗的患者进展为脑病并死亡。在第二阶段观察的13例连续患者中，2例入院时患有脑病的患者未接受D-青霉胺治疗并接受了肝移植。其余11例患者均接受了D-青霉胺治疗。其中10例患者存活且无需进行肝移植，恢复为代偿性肝病且无肝功能不全。1例患者肝功能不全进展，不得不进行肝移植。
在大多数以严重肝功能不全为特征且入院时无脑病的威尔逊病患者中，早期给予D-青霉胺可使患者存活且无需进行肝移植。这些结果表明在脑病发作前早期诊断这种形式的威尔逊病很重要，并支持早期给予D-青霉胺，这在大多数情况下可避免进行肝移植。
