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- W256750 abstract "In 1912, Wilson and Fleischer independently reported autopsied patients with progressive neurological disorder associated with cirrhosis of the liver, and they proposed that the syndrome could be a specific disease of toxic origin. In 1952, Scheinberg demonstrated a deficiency of serum ceruloplasmin in Wilson's disease, and it became possible to diagnose the illness while the patient was still asymptomatic. In 1956, Walshe introduced penicillamine as the most excellent drug for treatment of the disease. These epoch-making discoveries encouraged Japanese physicians to make early diagnosis and to try prevention of the disease. This lecture was to review the changing panorama in the diagnosis, treatment and prognosis of the disease in the period of forty years focusing on the experiences in Japan. Early detection of the patients based on hypoceruloplasminemia made it possible to investigate the onset ages of an elevation of serum GOT or GPT and the appearance of Kayser-Fleischer (KF) rings. So far, the youngest patients who exhibited high GPT level and KF rings were three years and five years old, respectively. It became popular that an unexpected elevation of serum transaminase in apparently healthy children of three years or more prompted to examine the possibility of Wilson's disease, and an increasing number of non-familial patients in late infancy have been detected. Now, the mass-screening for Wilson's disease is in progress. Follow-up studies on the prophylaxis for more than thirty years definitely proved that the appearance of clinical symptoms was prevented with the continued penicillamine therapy.(ABSTRACT TRUNCATED AT 250 WORDS)" @default.
- W256750 created "2016-06-24" @default.
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- W256750 date "1995-03-01" @default.
- W256750 modified "2023-09-23" @default.
- W256750 title "[Wilson's disease--evolutive panorama of diagnosis and treatment in the last forty years]." @default.
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