Di Paolo N, Guercia C, Manganelli A, Gaggiotti E, Mattei F, Acconcia A
Minerva Med. 1975 Dec 15;66(86):4630-43.
A case of alkaptonuria with ochronosis is described. It is suggested that such cases are not so much rare as unobserved. Their aetiology is to be sought in a metabolic error, though the pathogenesis is not clear. The syndrome is of interest because ochronosis, wich is the articular manifestation, is one of the few rheumatological affections with a certain aetiology. The case described is unusual on account of the presence of monoclonal gammopathy. Since the presence of myeloma and macroglobulinaemia could be excluded, an immunological relation was sought between the alkaptonuria and the particular serological picture.
本文描述了一例伴有褐黄病的尿黑酸尿症病例。有人认为,这类病例并非罕见,而是未被观察到。其病因应从代谢错误中寻找,尽管发病机制尚不清楚。该综合征之所以令人关注,是因为作为关节表现的褐黄病是少数几种病因明确的风湿性疾病之一。所描述的病例因存在单克隆丙种球蛋白病而不寻常。由于可以排除骨髓瘤和巨球蛋白血症的存在,因此在尿黑酸尿症与特定血清学表现之间寻找免疫关系。