Marcus S, Sahlén S, Lambert B, Wettrell G
Environmental Medicine Unit, Karolinska Institute, CNT/Novum, Hudding, Sweden.
Acta Paediatr. 1993 Sep;82(9):758-63. doi: 10.1111/j.1651-2227.1993.tb12553.x.
We have identified a mutation in the gene coding for the enzyme hypoxanthine phosphoribosyltransferase in a pediatric patient with hyperuricemia and nephrolithiasis. The mutation is a nucleotide substitution causing an amino acid substitution in the hypoxanthine phosphoribosyltransferase protein. In this patient, fibroblasts but not lymphocytes showed resistance to 6-thioguanine, and reduced enzyme activity was detected in lymphocytes. These results are consistent with the intermediary phenotype associated with partial hypoxanthine phosphoribosyltransferase enzyme deficiency. Altogether, six males in this family suffered from hyperuricemic symptoms, and small differences in phenotype were seen.
我们在一名患有高尿酸血症和肾结石的儿科患者中，鉴定出编码次黄嘌呤磷酸核糖转移酶的基因发生了突变。该突变是一种核苷酸替换，导致次黄嘌呤磷酸核糖转移酶蛋白中的氨基酸替换。在该患者中，成纤维细胞而非淋巴细胞对6-硫鸟嘌呤表现出抗性，并且在淋巴细胞中检测到酶活性降低。这些结果与次黄嘌呤磷酸核糖转移酶部分酶缺乏相关的中间表型一致。这个家族中共有六名男性患有高尿酸血症症状，且在表型上存在细微差异。
