Laminski N A, Meyers A M, Sonnekus M I, Smyth A E
Department of Medicine, Metabolic Stone Clinic, Johannesburg, South Africa.
Nephron. 1990;56(4):379-86. doi: 10.1159/000186179.
Several underlying metabolic abnormalities may be present in patients with recurrent calcium calculus disease (RCCD). The aim of this study was to determine the prevalence of deficiencies of 2 well-known potent inhibitors of crystal formation and growth, citrate and pyrophosphate, in the various metabolic subgroups and as single defects. In 107 patients with RCCD, urinary citrate was significantly decreased in all metabolic subgroups with 49% of patients having hypocitraturia (2.53 +/- 1.19 mmol/24 h) versus controls (3.44 +/- 0.96 mmol/24 h; p less than 0.001). Reduced pyrophosphate:creatinine ratios were present in all the patient subgroups, and 48% of all patients had reduced ratios (1.68 +/- 1.68 vs. 3.10 +/- 2.66 in controls; p less than 0.01). There was no correlation between citrate and pyrophosphate concentration. Isolated hypocitraturia was found in 11.2%, reduced pyrophosphate:creatinine ratios as the single defect in 11.2% and a combination of both in 12.1% of patients. Thus inhibitor defects play an important role in patients with RCCD and frequently occur as isolated biochemical defects.
复发性钙结石病（RCCD）患者可能存在几种潜在的代谢异常。本研究的目的是确定两种著名的晶体形成和生长强效抑制剂——柠檬酸盐和焦磷酸盐——在各种代谢亚组中的缺乏率以及作为单一缺陷的情况。在107例RCCD患者中，所有代谢亚组的尿柠檬酸盐均显著降低，49%的患者存在低枸橼酸尿症（2.53±1.19 mmol/24 h），而对照组为（3.44±0.96 mmol/24 h；p<0.001）。所有患者亚组的焦磷酸盐与肌酐比值均降低，所有患者中有48%的比值降低（对照组为3.10±2.66，患者组为1.68±1.68；p<0.01）。柠檬酸盐和焦磷酸盐浓度之间无相关性。11.2%的患者存在孤立性低枸橼酸尿症，11.2%的患者以焦磷酸盐与肌酐比值降低作为单一缺陷，12.1%的患者两者兼有。因此，抑制剂缺陷在RCCD患者中起重要作用，且常作为孤立的生化缺陷出现。
