Cantatore F P, Papadia F, Giannico G, Simonetti S, Carrozzo M
Department of Rheumatology, University of Bari, Italy.
Clin Rheumatol. 1993 Sep;12(3):410-4. doi: 10.1007/BF02231590.
Two cases of prolidase deficiency in two siblings are presented. The patients complained of the typical clinical symptoms of the disease, including chronic leg ulcerations resembling vasculitis. They were mentally retarded, had typical facial characteristics, splenomegaly, and haematologic anomalies. Biochemical and morphological investigations confirmed the diagnosis. In these cases, alterations of the peripheral nervous system and decreased IgA levels were demonstrated for the first time.
本文报告了两例患脯氨肽酶缺乏症的同胞病例。患者出现了该疾病的典型临床症状，包括类似血管炎的慢性腿部溃疡。他们智力发育迟缓，具有典型的面部特征、脾肿大和血液学异常。生化和形态学检查确诊了该病。在这些病例中，首次发现了外周神经系统的改变和IgA水平降低。
