Tessier J, Petrucci M, Trouvé M L, Valiquette L, Guay G, Ouimet D, Bonnardeaux A
Centre de Recherche Guy Bernier, Hôpital Maisonneuve-Rosemont, Montréal, Québec, Canada.
Kidney Int. 2001 Sep;60(3):1141-7. doi: 10.1046/j.1523-1755.2001.0600031141.x.
A family history increases the risk of kidney stone passage independent of dietary risk factors. However, the metabolic basis for familial aggregation of urolithiasis is unknown.
We evaluated metabolic risk factors in families with at least two sibs with a history of calcium stones. Sibs underwent outpatient evaluations simultaneously, including 24-hour urine collection and oral calcium loading. Phenotypes were compared between affected and unaffected sibs from the same sibship.
Eighty-three sibships comprising 388 sibs (212 affected sibs, 114 males and 98 females, and 176 unaffected sibs, 68 males and 108 females) from 71 families were analyzed. Daily urine calcium excretion was higher in affected compared with unaffected sibs (0.64 +/- 0.33 vs. 0.50 +/- 0.22 mmol Ca(2+)/mmol creatinine, respectively, P < 10(-5)). This corresponded to absolute values of 7.4 +/- 3.9 and 5.1 +/- 2.3 mmol Ca(2+)/day, respectively, for affected and unaffected males, and 5.4 +/- 2.6 and 4.2 +/- 1.9 mmol Ca(2+)/day, respectively, for affected and unaffected female sibs. When analyzed by tertile of onset age of stone passage, the differences in urine calcium were only significant in the first two tertiles (with onset age of stone passage <35 years). The fasting urine Ca(2+)/creatinine ratio was significantly higher in stone formers compared with control sibs (0.46 +/- 0.27 vs. 0.40 +/- 0.27, P = 0.04), as was the postcalcium load Ca(2+)/creatinine ratio (0.57 +/- 0.46 vs. 0.43 +/- 0.41, respectively, P = 0.02). Body mass index was marginally significantly higher in stone forming sibs (P = 0.04). Other urine phenotypes, including oxalate, phosphate, magnesium, citrate, urate, sodium, ammonium, and volume, were not associated with stone passage.
Increased urine calcium excretion is the only phenotype associated with a kidney stone formation in these French-Canadian families.
家族病史会增加肾结石排出的风险，且独立于饮食风险因素。然而，尿石症家族聚集的代谢基础尚不清楚。
我们评估了至少有两个同胞有钙结石病史的家族中的代谢风险因素。同胞同时接受门诊评估，包括24小时尿液收集和口服钙负荷试验。对来自同一同胞关系中患结石和未患结石的同胞的表型进行比较。
分析了来自71个家庭的83个同胞关系，共388名同胞（212名患结石同胞，其中114名男性和98名女性；176名未患结石同胞，其中68名男性和108名女性）。患结石的同胞每日尿钙排泄量高于未患结石的同胞（分别为0.64±0.33与0.50±0.22 mmol Ca(2+)/mmol肌酐，P < 10(-5)）。这对应于患结石和未患结石男性的绝对值分别为7.4±3.9和5.1±2.3 mmol Ca(2+)/天，患结石和未患结石女性同胞分别为5.4±2.6和4.2±1.9 mmol Ca(2+)/天。按结石排出起始年龄的三分位数分析时，尿钙差异仅在前两个三分位数中有显著性（结石排出起始年龄<35岁）。结石形成者的空腹尿Ca(2+)/肌酐比值显著高于对照同胞（0.46±0.27与0.40±0.27，P = 0.04），钙负荷后Ca(2+)/肌酐比值也是如此（分别为0.57±0.46与0.43±0.41，P = 0.02）。结石形成同胞的体重指数略高，有显著性（P = 0.04）。其他尿液表型，包括草酸盐、磷酸盐、镁、柠檬酸盐、尿酸盐、钠、铵和尿量，与结石排出无关。
在这些法裔加拿大家族中，尿钙排泄增加是与肾结石形成相关的唯一表型。
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