Monro P
J Clin Pathol. 1970 Sep;23(6):487-91. doi: 10.1136/jcp.23.6.487.
A patient with Wilson's disease presented at the age of 41 with a neurological defect and gross osteomalacia secondary to a defect of renal tubular reabsorption. He also showed the unusual features of a renal stone in the presence of the Fanconi syndrome and a relatively low alkaline phosphatase level, possibly due to the additional inherited defect of hypophosphatasia. During four years of treatment with penicillamine and calciferol clinical improvement was spectacular. Details of amino-acid clearances before and after treatment are given, and the results suggest that, as in the brain and the liver, the function of the distal renal tubules may be restored in Wilson's disease when copper is removed.
一名患有威尔逊氏病的患者在41岁时出现神经功能缺损以及继发于肾小管重吸收缺陷的严重骨软化症。他还表现出范科尼综合征伴肾结石以及碱性磷酸酶水平相对较低的不寻常特征，这可能是由于额外遗传的低磷酸酯酶症缺陷所致。在使用青霉胺和维生素D进行四年治疗期间，临床症状有显著改善。文中给出了治疗前后氨基酸清除率的详细情况，结果表明，与大脑和肝脏的情况一样，在威尔逊氏病中去除铜后，远端肾小管的功能可能会恢复。
