Shrinath M, Walter J H, Haeney M, Couriel J M, Lewis M A, Herrick A L
Royal Manchester Children's Hospital.
Arch Dis Child. 1997 May;76(5):441-4. doi: 10.1136/adc.76.5.441.
Two children with prolidase deficiency, an inborn error of proline metabolism, developed clinical and immunological abnormalities consistent with a diagnosis of systemic lupus erythematosus (SLE). The first child died from septicaemia, and SLE was only diagnosed during his terminal illness. As a result of this diagnosis his cousin, who was already known to have prolidase deficiency, was investigated further and a diagnosis of SLE confirmed. Following treatment with oral prednisolone her clinical condition has improved, although she has a persistently raised erythrocyte sedimentation rate (ESR) and florid facial rash. Both prolidase deficiency and SLE are associated with disturbances in immune function and have clinical features in common. It is likely that prolidase deficiency is a risk factor for the development of SLE. Additionally, patients with SLE should-where there is a family history or presentation in childhood-be specifically investigated for prolidase deficiency, since standard immunological or haematological investigations will not identify the characteristic biochemical abnormalities.
两名患有脯氨肽酶缺乏症（一种脯氨酸代谢的先天性疾病）的儿童出现了与系统性红斑狼疮（SLE）诊断相符的临床和免疫学异常。第一名儿童死于败血症，SLE仅在其临终时才被诊断出来。由于这一诊断，对其已被确诊患有脯氨肽酶缺乏症的表妹进行了进一步检查，并确诊为SLE。口服泼尼松龙治疗后，她的临床状况有所改善，尽管她的红细胞沉降率（ESR）持续升高且面部皮疹明显。脯氨肽酶缺乏症和SLE均与免疫功能紊乱有关，且有共同的临床特征。脯氨肽酶缺乏症很可能是SLE发病的一个危险因素。此外，对于有家族病史或儿童期发病的SLE患者，应专门检查是否存在脯氨肽酶缺乏症，因为标准的免疫学或血液学检查无法识别其特征性的生化异常。
