Degenhardt S, Blomhard G, Hefter H, Kreuzpaintner G, Lindemann W, Lobeck H, Schnaith E, Stremmel W, Grabensee B
Klinik für Nephrologie, Universität Düsseldorf.
Dtsch Med Wochenschr. 1994 Oct 21;119(42):1421-6. doi: 10.1055/s-2008-1058855.
An 18-year-old woman developed an acute haemolytic anaemia, acute transient renal failure and progressive hepatic failure. Coeruloplasmin and serum copper concentration were normal; a Kayser-Fleischer ring and any neurological symptoms were absent initially. Liver biopsy was contraindicated because of increased bleeding tendency. Wilson's disease was diagnosed only after the acute renal failure had regressed, on the basis of the urinary copper excretion (2890 micrograms/d, rising to 7330 micrograms/d after D-penicillamine administration). Progressive liver failure required transplantation. After it the patient quickly recovered and is now, two years later, free of disease. -This case demonstrates that Wilson's disease may be difficult to diagnose at the time of initial acute manifestation. But it can be recognized early from the pathognomonic low alkaline phosphatase and by calculation of free serum copper.
一名18岁女性出现急性溶血性贫血、急性短暂性肾衰竭和进行性肝衰竭。血浆铜蓝蛋白和血清铜浓度正常；最初未出现凯泽-弗莱舍尔环及任何神经症状。由于出血倾向增加，肝活检被列为禁忌。仅在急性肾衰竭消退后，根据尿铜排泄量（2890微克/天，给予青霉胺后升至7330微克/天）才诊断为威尔逊病。进行性肝衰竭需要进行肝移植。移植后患者迅速康复，两年后的现在已无疾病。——该病例表明，威尔逊病在最初急性表现时可能难以诊断。但可通过特征性的低碱性磷酸酶以及计算游离血清铜早期识别。
