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家族性结石病风险:瑞典人群中的涎石病、尿石病和胆石病。

Familial risks in and between stone diseases: sialolithiasis, urolithiasis and cholelithiasis in the population of Sweden.

机构信息

Division of Molecular Genetic Epidemiology, German Cancer Research Center (DKFZ), Im Neuenheimer Feld 580, D-69120, Heidelberg, Germany.

Center for Primary Health Care Research, Lund University, 205 02, Malmö, Sweden.

出版信息

BMC Nephrol. 2018 Jul 3;19(1):158. doi: 10.1186/s12882-018-0945-y.

Abstract

BACKGROUND

According to the literature the three stone diseases, sialolithiasis (SL), urolithiasis (UL) and cholelithiasis (CL) share comorbidities. We assess familial and spouse risks between these stone disease and compare them to familial risks for concordant (same) stone disease.

METHODS

Study population including familiar relationships was obtained from the Swedish Multigeneration Register and stone disease patients were identified from nation-wide medical records. Standardized incidence ratios (SIRs) were calculated for 0-83 year old offspring when their first-degree relatives were diagnosed with stone disease and the rates were compared to individuals without a family history of stone disease. Numbers of offspring with SL were 7906, for UL they were 170,757 and for CL they were 204,369.

RESULTS

SIRs for concordant familial risks were 2.06 for SL, 1.94 for UL and 1.82 for CL. SIRs for SL and UL were slightly higher for women than for men. Familial risks between stone diseases were modest. The highest risk of 1.17 was for UL when family members were diagnosed with CL, or vice versa. The SIR for UL was 1.15 when family members were diagnosed with SL. Familial risks among spouses were increased only for UL-CL pairs (1.10).

CONCLUSIONS

Familial risks for concordant SL were 2.06 and marginally lower for the other diseases. Familial risks between stone diseases were low but higher than risks between spouses. The data show that familial clustering is unique to each individual stone disease which would imply distinct disease mechanisms. The results cast doubt on the reported comorbidities between these diseases.

摘要

背景

根据文献,三种结石病,涎石病(SL)、尿石病(UL)和胆石病(CL)共患疾病。我们评估这些结石病之间的家族和配偶风险,并将其与同一种结石病的家族风险进行比较。

方法

研究人群包括亲属关系,是从瑞典多代登记处获得的,结石病患者是从全国性的医疗记录中确定的。计算 0-83 岁子女一级亲属诊断为结石病时的标准化发病比(SIR),并与无结石病家族史的个体进行比较。SL 的子女数量为 7906 人,UL 为 170757 人,CL 为 204369 人。

结果

SL 的一致性家族风险 SIR 为 2.06,UL 为 1.94,CL 为 1.82。SL 和 UL 的女性 SIR 略高于男性。结石病之间的家族风险适中。当家庭成员被诊断为 CL 或反之亦然时,UL 的风险最高,为 1.17。当家庭成员被诊断为 SL 时,UL 的 SIR 为 1.15。仅 UL-CL 对配偶的家族风险增加(1.10)。

结论

SL 的一致性家族风险为 2.06,其他疾病的风险略低。结石病之间的家族风险较低,但高于配偶之间的风险。这些数据表明,家族聚集性是每种个体结石病所特有的,这意味着存在不同的疾病机制。结果对这些疾病之间存在共患病的报道提出了质疑。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/11a0/6029375/a12ab42ab0c6/12882_2018_945_Fig1_HTML.jpg

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