Helin I
Scand J Urol Nephrol. 1979;13(3):335-7. doi: 10.3109/00365597909179548.
Fabry's disease is an X-linked inborn error of glycosphingolipid catabolism, resulting from deficient activity of the enzyme alpha-galactosidase. The wide variety of symptoms may make it difficult to establish a diagnosis. This study was based on a Scandinavian survey of cases between 1967 and 1975. Altogether 13 cases were collected. Enzymatic studies and electromicroscopy confirmed the diagnosis in all cases. Renal transplantation has been performed in one Swedish patient and 8 years later his general health is good. Three of the patients died at about 50 years of age, which illustrates the grave prognosis of the disease. The report is concluded with a short review of the symptomatology, diagnosis and treatment of Fabry's disease. The possibility of enzyme replacement therapy and the potential value of renal transplantation are discussed. Prenatal diagnosis of Fabry's disease may also be possible.
法布里病是一种X连锁的鞘糖脂分解代谢先天性缺陷疾病，由α-半乳糖苷酶活性不足引起。其症状多种多样，可能难以确诊。本研究基于1967年至1975年间斯堪的纳维亚地区的病例调查。共收集到13例病例。酶学研究和电子显微镜检查在所有病例中均证实了诊断。一名瑞典患者接受了肾移植，8年后他的总体健康状况良好。3名患者在50岁左右死亡，这说明了该疾病的严重预后。报告最后简要回顾了法布里病的症状、诊断和治疗。讨论了酶替代疗法的可能性以及肾移植的潜在价值。法布里病的产前诊断也有可能。
