Dataset Information

Risk of aortic aneurysm and dissection in patients with autosomal-dominant polycystic kidney disease: a nationwide population-based cohort study.

ABSTRACT: Although cardiovascular complications are the most common cause of death in patients with autosomal-dominant polycystic kidney disease (ADPKD), the incidence and risk of aortic aneurysm and dissection (AAD) in ADPKD remains unclear due to limited data and insufficient cases. We utilized the data from Taiwan National Health Insurance Research Database (NHIRD) to do a population-based cohort study (1997-2008). After excluding those patients with age <18 years old and initially concomitant diagnoses of end-stage renal disease and AAD, a total of 2076 ADPKD patients were selected from 1,000,000 of general population. Additionally, the non-ADPKD group was set up as comparison group in 1:10 ratio after matching with age, gender, income and urbanization (n=20760). The result showed that ADPKD group had higher frequency of comorbidities than non-ADPKD group. The frequency of AAD in ADPKD was significantly higher than in general population (0.92% v.s. 0.11%, p<0.0001). Of them, 58% of AAD were acute aortic dissection. In addition, Kaplan-Meier analysis demonstrated that cumulative incidence of AAD was remarkably higher in the ADPKD than non-ADPKD group (p<0.001). The mean time period from ADPKD diagnosis to AAD occurrence was 4.02±3.16 years. After adjusting for age, gender and comorbidities, the ADPKD patients had up to 5.49-fold greater risk for AAD occurrence as compared to non-ADPKD counterparts (95% CI 2.86-10.52, p<0.0001). Particularly, those patients with co-existing ADPKD and hypertension had very high risk for future development of AAD. In conclusion, the risk of AAD significantly increases in patients with ADPKD as compared with those of general population.

SUBMITTER: Sung PH

PROVIDER: S-EPMC5593670 | biostudies-literature | 2017 Aug

REPOSITORIES: biostudies-literature

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Risk of aortic aneurysm and dissection in patients with autosomal-dominant polycystic kidney disease: a nationwide population-based cohort study.

Sung Pei-Hsun PH Yang Yao-Hsu YH Chiang Hsin-Ju HJ Chiang John Y JY Chen Chi-Jen CJ Liu Chien-Ting CT Yu Cheuk-Man CM Yip Hon-Kan HK

Oncotarget 20170317 34

Although cardiovascular complications are the most common cause of death in patients with autosomal-dominant polycystic kidney disease (ADPKD), the incidence and risk of aortic aneurysm and dissection (AAD) in ADPKD remains unclear due to limited data and insufficient cases. We utilized the data from Taiwan National Health Insurance Research Database (NHIRD) to do a population-based cohort study (1997-2008). After excluding those patients with age <18 years old and initially concomitant diagnose ...[more]

PMID: 28915698

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Project description:ImportanceMost studies of autosomal dominant polycystic kidney disease (ADPKD) genetics have used kidney specialty cohorts, focusing on PKD1 and PKD2. These can lead to biased estimates of population prevalence of ADPKD-associated gene variants and their phenotypic expression.ObjectiveTo determine the prevalence of ADPKD and contributions of PKD1, PKD2, and other genes related to cystic kidney disease in a large, unselected cohort.Design, setting, and participantsThis retrospective observational study used an unselected health system-based cohort in central and northeast Pennsylvania with exome sequencing (enrolled from 2004 to 2020) and electronic health record data (up to October 2021). The genotype-first approach included the entire cohort and the phenotype-first approach focused on patients with ADPKD diagnosis codes, confirmed by chart and imaging review.ExposuresLoss-of-function (LOF) variants in PKD1, PKD2, and other genes associated with cystic kidney disease (ie, ALG8, ALG9, DNAJB11, GANAB, HNF1B, IFT140, SEC61B, PKHD1, PRKCSH, SEC63); likely pathogenic missense variants in PKD1 and PKD2.Main outcomes and measuresGenotype-first analysis: ADPKD diagnosis code (Q61.2, Q61.3, 753.13, 753.12); phenotype-first analysis: presence of a rare variant in PKD1, PKD2, or other genes associated with cystic kidney disease.ResultsOf 174 172 patients (median age, 60 years; 60.6% female; 93% of European ancestry), 303 patients had ADPKD diagnosis codes, including 235 with sufficient chart review data for confirmation. In addition to PKD1 and PKD2, LOF variants in IFT140, GANAB, and HNF1B were associated with ADPKD diagnosis after correction for multiple comparisons. Among patients with LOF variants in PKD1, 66 of 68 (97%) had ADPKD; 43 of 43 patients (100%) with LOF variants in PKD2 had ADPKD. In contrast, only 24 of 77 patients (31.2%) with a PKD1 missense variant previously classified as "likely pathogenic" had ADPKD, suggesting misclassification or variable penetrance. Among patients with ADPKD diagnosis confirmed by chart review, 180 of 235 (76.6%) had a potential genetic cause, with the majority being rare variants in PKD1 (127 patients) or PKD2 (34 patients); 19 of 235 (8.1%) had variants in other genes associated with cystic kidney disease. Of these 235 patients with confirmed ADPKD, 150 (63.8%) had a family history of ADPKD. The yield for a genetic determinant of ADPKD was higher for those with a family history of ADPKD compared with those without family history (91.3% [137/150] vs 50.6% [43/85]; difference, 40.7% [95% CI, 29.2%-52.3%]; P < .001). Previously unreported PKD1, PKD2, and GANAB variants were identified with pedigree data suggesting pathogenicity, and several PKD1 missense variants previously reported as likely pathogenic appeared to be benign.Conclusions and relevanceThis study demonstrates substantial genetic and phenotypic variability in ADPKD among patients within a regional health system in the US.

Project description:BackgroundUreteroscopy is a minimally invasive treatment option for upper tract stones. The distorted kidney anatomy in patients with autosomal dominant polycystic kidney disease (ADPKD) may place them at higher risk for ureteroscopic complications.ObjectiveTo compare the 30-day risk of ureteroscopic complications between patients with and without ADPKD.DesignRetrospective cohort study.SettingOntario, Canada.PatientsSeventy three patients with ADPKD and 81 445 patients without ADPKD who underwent ureteroscopy for upper urinary tract stones between April 1, 2002, and March 1, 2018.MeasurementsA 30-day risk of (1) hospital presentation with ureteroscopic complications (which was a composite outcome of either emergency department visit or hospital admission with acute kidney injury, urinary tract infection, or sepsis); (2) all-cause hospital presentation; (3) all-cause hospital admission; and (4) all-cause emergency department visit.MethodsWe regressed outcomes on demographic variables, health care use in the prior 1-year, various procedures and comorbidities related to the outcome in the prior 5 years, and prescribed medications filled in the past 120 days using modified Poisson regression to compare the risk ratio (RR) of each outcome between patients with and without ADPKD.ResultsThe median (interquartile, IQR) age was 44 (38-60 years) in the ADPKD group and 53 (42-64) in the control group. About 40% were women in both groups. The risk of ureteroscopic complications was not significantly different in patients with versus without ADPKD (8.2% vs 4.3%; adjusted RR = 1.5, 95% confidence interval [CI] = 0.7-3.2). Patients with versus without ADPKD were more likely to present to hospital after their procedure (35.6% vs. 20.0%; adjusted RR = 1.6, 95% CI = 1.2-2.2), which included a statistically significant increase in the risk of presenting to the emergency department (32.9% vs. 19.0%; adjusted RR = 1.6, 95% CI = 1.1-2.2) but not hospital admissions (10.9% vs. 5.0%; adjusted RR = 1.8, 95% CI = 0.9-3.4).LimitationsThe low numbers of events led to imprecision around the estimates.ConclusionPatients with ADPKD have a higher risk of return to the hospital within 30 days of ureteroscopy for stone disease.Trial registrationWe did not register this study.

Dataset Information

Risk of aortic aneurysm and dissection in patients with autosomal-dominant polycystic kidney disease: a nationwide population-based cohort study.

Publications

Risk of aortic aneurysm and dissection in patients with autosomal-dominant polycystic kidney disease: a nationwide population-based cohort study.

Similar Datasets

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