Kaplan B S, Mills M
Clin Nephrol. 1978 Nov;10(5):208-12.
Low levels of red blood cell (RBC) carbonic anhydrase (CA) activity in hemoglobin-free hemolyzate (HFH) were found in 2 children with nephrolithiasis when compared to age-matched controls. The lowest levels were consistently found over a two year period in a 6 1/2 year old boy (U.P.) whose renal calculi contained uric acid, ammonia, calcium carbonate and oxalate. His RBC CA values ranged from 1.4-2.7 U/g Hb compared with levels of 3.9-5.3 U/g Hb in control subjects. Statistical comparisons of the mean values for U.P., 2.06 U/g Hb, and his age-matched control subjects, 4.46 U/g Hb, revealed a significant difference (P = less than 0.001). Similar reductions in RBC CA activity were found in his father--2.0 and 2.1 U/g Hb compared with 3.3 and 3.9 U/g Hb in adult controls. HFH CA activity was not decreased in the mother or sister. Polyacrylamide gel electrophoresis of HFH from 4 of the children and the father of U.P. was abnormal. However, this abnormal electrophoretic pattern could only be demonstrated when the gel was run for 120 minutes and not when it was run for 80 or 160 minutes. We have identified a patient and his father with low levels of RBC CA activity.
与年龄匹配的对照组相比，在2名肾结石患儿的无血红蛋白溶血产物（HFH）中发现红细胞（RBC）碳酸酐酶（CA）活性水平较低。在一名6岁半的男孩（U.P.）中，在两年期间持续发现最低水平，其肾结石含有尿酸、氨、碳酸钙和草酸盐。他的RBC CA值范围为1.4 - 2.7 U/g Hb，而对照受试者的水平为3.9 - 5.3 U/g Hb。对U.P.的平均值2.06 U/g Hb与他年龄匹配的对照受试者的平均值4.46 U/g Hb进行统计比较，发现有显著差异（P < 0.001）。在他父亲身上也发现了类似的RBC CA活性降低情况，其值为2.0和2.1 U/g Hb，而成年对照者为3.3和3.9 U/g Hb。母亲和姐姐的HFH CA活性没有降低。对4名患儿以及U.P.的父亲的HFH进行聚丙烯酰胺凝胶电泳显示异常。然而，这种异常电泳图谱只有在凝胶运行120分钟时才能显示出来，而在运行80分钟或160分钟时则无法显示。我们已鉴定出一名患者及其父亲，其RBC CA活性水平较低。
