Prolidase deficiency: it looks like systemic lupus erythematosus but it is not
Prolidase deficiency: it looks like systemic lupus erythematosus but it is not
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DOI：
10.1007/s00431-009-1102-1
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发表时间：
2010-06-01
影响因子：
3.6
通讯作者：
Falik-Zaccai, Tzipora C.
中科院分区：
文献类型：
--
作者：
Klar, Aharon;Navon-Elkan, Paulina;Falik-Zaccai, Tzipora C.
三个患有顽固性腿部溃疡、脾肿大、光敏性皮疹和自身抗体的兄弟姐妹被怀疑患有脯氨酸酶缺乏症。检查尿液中是否有亚氨基二肽尿，培养成纤维细胞并分析脯氨酸酶活性，并提取 DNA 以鉴定致病突变。甘氨酰脯氨酸被发现是尿液中的主要二肽。成纤维细胞中脯氨酸二肽酶的活性是对照成纤维细胞的2.5%。 PEPD 基因的序列分析揭示了第 768 位核苷酸处的纯合无义 C -> G 转换。总之，在患有皮肤溃疡自身抗体和狼疮样疾病的兄弟姐妹中诊断出脯氨酸酶缺乏症。发现了一种新的无义突变，它与我们患者的严重后果有关。
Three siblings with recalcitrant leg ulceration, splenomegaly, photosensitive rash, and autoantibodies were suspected of having prolidase deficiency. Urine was checked for iminodipeptiduria, fibroblasts were cultured and analyzed for prolidase activity, and DNA was extracted for identifying the causative mutation. Glycyl proline was found as the dominant dipeptide in the urine. The activity of proline dipeptidase in fibroblasts was 2.5% of control fibroblasts. Sequence analysis of the PEPD gene revealed a homozygous nonsense C -> G transition at nucleotide 768. In conclusion, prolidase deficiency was diagnosed in siblings with skin ulceration autoantibodies and a lupus-like disease. A novel nonsense mutation was found, associated with the severe outcome of our patients.