Hemminki Kari, Hemminki Otto, Försti Asta, Sundquist Kristina, Sundquist Jan, Li Xinjun
Division of Molecular Genetic Epidemiology, German Cancer Research Center (DKFZ), Heidelberg, Germany.
Center for Primary Health Care Research, Lund University, Malmö, Sweden.
BJU Int. 2018 Mar;121(3):479-485. doi: 10.1111/bju.14096. Epub 2018 Jan 14.
To assess detailed familial risks for medically diagnosed urolithiasis (UL, urinary tract stone disease) based on nationwide hospital and population records.
PATIENTS/SUBJECTS AND METHODS: Subjects were identified from the Swedish Multigeneration Register in which there were 211 718 patients with UL. Standardised incidence ratios (SIRs) were calculated by comparison to individuals without a family history of UL.
The highest familial SIRs were invariably found for the same (concordant) type of UL: 2.18 for kidney, 2.20 for ureter, and 1.93 for bladder. SIRs increased from 1.84, when one parent was affected, to 3.54 when both parents were affected, which was a multiplicative interaction. The SIR was 1.79 when one sibling was affected but it increased to 24.91 when two siblings were affected. Such excessive risks (5.2% of familial cases) are probably explained by high-penetrant genes. A low SIR of 1.29 between spouses suggested a minor contribution by shared environmental factors on the familial risk.
The results point to underlying genetic causes for the observed familial clustering and establish the genetic landscape of UL. Family histories should be taken in UL diagnostics and prevention could follow guidelines recommended for recurrent UL.
基于全国性的医院和人口记录，评估医学诊断的尿路结石病（UL，泌尿系统结石病）的详细家族风险。
患者/研究对象与方法：从瑞典多代登记册中识别出研究对象，其中有211718例UL患者。通过与无UL家族史的个体进行比较，计算标准化发病率（SIR）。
对于相同（一致）类型的UL，家族性SIR总是最高的：肾结石为2.18，输尿管结石为2.20，膀胱结石为1.93。当一方父母患病时，SIR从1.84增加到双方父母都患病时的3.54，这是一种相乘交互作用。当一个兄弟姐妹患病时，SIR为1.79，但当两个兄弟姐妹都患病时，SIR增加到24.91。这种过高的风险（占家族性病例的5.2%）可能由高外显率基因解释。配偶之间较低的SIR为1.29，表明共同环境因素对家族风险的贡献较小。
结果表明观察到的家族聚集存在潜在的遗传原因，并确立了UL的遗传格局。在UL诊断中应询问家族史，预防可遵循针对复发性UL推荐的指南。
