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首页> 外文期刊>Biological trace element research >A critical evaluation of copper metabolism in Indian Wilson's disease children with special reference to their phenotypes and relatives.
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A critical evaluation of copper metabolism in Indian Wilson's disease children with special reference to their phenotypes and relatives.

机译：对印第安威尔逊氏病患儿铜代谢的重要评估，特别要参考他们的表型和亲戚。

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Wilson's disease is an autosomal recessive disorder of copper accumulation in various organs, with most common clinical manifestations such as hepatic, neurological, and renal dysfunctions. Serum copper and ceruloplasmin in Wilson's disease were significantly lower as compared to normals, controls, and relatives of Wilson's disease patients, whereas marked hypercupriuria (145+/-7 microg/24 h) was observed in Wilson's children only. A good correlation (r=0.92) was found between non-ceruloplasmin-bound copper and 24-h urinary copper excretion in Wilson's disease patients. Further, copper studies among the different phenotypes of Wilson's disease revealed substantially low serum ceruloplasmin and a marked hypercupriuria in Wilson's disease children associated with renal tubular acidosis as compared to the patients with either hepatological or neurological manifestations. Serum ceruloplasmin levels in 14 patients of Wilson's disease were between 14 and 20 mg/dL. These patients of Wilson's disease were confirmed by measuring liver biopsy copper, which was about nine times higher than normal hepatic copper content. During the family screening by copper studies, four asymptomatic siblings were diagnosed for Wilson's disease. These subjects were then started on D-penicillamine therapy because presymptomatic treatment prevents progression of the disease complications.
机译：威尔逊氏病是铜在各种器官中的常染色体隐性遗传病，具有最常见的临床表现，例如肝，神经和肾功能不全。与正常，对照和威尔逊氏病患者的亲属相比，威尔逊氏病患者的血清铜和铜蓝蛋白含量显着降低，而仅威尔逊氏儿童中观察到明显的尿cu病（145 +/- 7微克/ 24小时）。在威尔逊氏病患者中，非铜蓝蛋白结合的铜与24小时尿铜排泄之间存在良好的相关性（r = 0.92）。此外，在威尔逊氏病的不同表型中进行的铜研究显示，与具有肝病或神经病学表现的患者相比，与肾小管性酸中毒相关的威尔逊氏病患儿的血清铜蓝蛋白水平明显偏低，并有明显的尿pri。 14例威尔逊病患者的血清铜蓝蛋白水平在14至20 mg / dL之间。通过测量肝活检铜证实了这些威尔逊病患者，铜的活检率是正常肝铜含量的九倍左右。在通过铜研究进行的家庭筛查中，诊断出四个无症状的兄弟姐妹患有威尔逊氏病。这些患者随后开始接受D-青霉胺治疗，因为对症前治疗可防止疾病并发症的进展。

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