scholarly journals Affected parent sex and severity of autosomal dominant polycystic kidney disease: a retrospective cohort study

2018 ◽  
Vol 89 (3) ◽  
pp. 196-204 ◽  
Author(s):  
Kristen Nowak ◽  
Michel Chonchol ◽  
Zhiying You ◽  
Malika Gupta ◽  
Berenice Gitomer

Keyword(s):  
Cohort Study ◽  
Kidney Disease ◽  
Polycystic Kidney Disease ◽  
Retrospective Cohort Study ◽  
Retrospective Cohort ◽  
Autosomal Dominant ◽  
Polycystic Kidney ◽  
Affected Parent ◽  
Autosomal Dominant Polycystic Kidney

scholarly journals Risk of Hospital Encounters With Kidney Stones in Autosomal Dominant Polycystic Kidney Disease: A Cohort Study

2021 ◽  
Vol 8 ◽  
pp. 205435812110002
Author(s):  
Vinusha Kalatharan ◽  
Blayne Welk ◽  
Danielle M. Nash ◽  
Stephanie N. Dixon ◽  
Justin Slater ◽  
...  
Keyword(s):  
Cohort Study ◽  
Kidney Disease ◽  
Polycystic Kidney Disease ◽  
Kidney Stones ◽  
Autosomal Dominant ◽  
Significant Risk ◽  
Hazard Ratio ◽  
Cox Proportional Hazards Model ◽  
Polycystic Kidney ◽  
Autosomal Dominant Polycystic Kidney

Background: There is a perception that patients with autosomal dominant polycystic kidney disease (ADPKD) are more likely to develop kidney stones than the general population. Objective: To compare the rate of hospital encounter with kidney stones and the rate of stone interventions between patients with and without ADPKD. Design: Retrospective cohort study. Setting: Ontario, Canada. Patients: Patients with and without ADPKD who had a prior hospital encounter between 2002 and 2016. Measurements: Rate of hospital encounter with kidney stones and rate of stone intervention. Methods: We used inverse probability exposure weighting based on propensity scores to balance baseline indicators of health between patients with and without ADPKD. We followed each patient until death, emigration, outcomes, or March 31, 2017. We used a Cox proportional hazards model to compare event rates between the two groups. Results: Patients with ADPKD were at higher risk of hospital encounter with stones compared with patients without ADPKD (81 patients of 2094 with ADPKD [3.8%] vs 60 patients of 1902 without ADPKD [3.2%]; 8.9 vs 5.1 events per 1000 person-years; hazard ratio 1.6 [95% CI, 1.3-2.1]). ADPKD was not associated with a higher risk of stone intervention (49 of 2094 [2.3%] vs 47 of 1902 [2.4%]; 5.3 vs 3.9 events per 1000 person-years; hazard ratio 1.2 [95% CI = 0.9-1.3]). Limitations: We did not have information on kidney stone events outside of the hospital. There is a possibility of residual confounding. Conclusion: ADPKD was a significant risk factor for hospital encounters with kidney stones.

scholarly journals Primary prevention of cardiovascular disease events with angiotensin-converting enzyme inhibitors and angiotensin receptor blockers in patients with autosomal dominant polycystic kidney disease on dialysis—a nationwide cohort study

2019 ◽  
Author(s):  
Chien-Yu Lin ◽  
Chien-Lin Lu ◽  
Lian-Yu Lin ◽  
Pau-Chung Chen ◽  
Kuo-Cheng Lu ◽  
...  
Keyword(s):  
Cardiovascular Disease ◽  
Cohort Study ◽  
Kidney Disease ◽  
Propensity Score ◽  
Propensity Score Matching ◽  
Polycystic Kidney Disease ◽  
Autosomal Dominant ◽  
Polycystic Kidney ◽  
Autosomal Dominant Polycystic Kidney

Abstract Background: Although renin-angiotensin-aldosterone system (RAAS) blockade has been shown to reduce cardiovascular disease (CVD) in the general population and high risk subjects, their protective effect in autosomal dominant polycystic kidney disease (ADPKD) patients under dialysis was still unknown. Methods: By using the database from 1995 to 2008 Taiwan National Health Insurance Research Database (Registry for Catastrophic Illnesses), we included 387 ADPKD patients who received dialysis therapy, aged ≥18 year-old, and with no evidence of CVD events in 1997 and 1998. We utilized Cox proportional hazards regression analysis and propensity score matching to evaluate adjusted hazard ratios for all-cause mortality and CVD events in users (n=231) and nonusers (n=156) of an angiotensin-converting enzymes inhibitor (ACEI) / angiotensin II receptor blocker (ARB) during the 12 years of follow-up. Results: All study subjects were followed up for more than 3 months. Compared with the control group, the ACEI/ARB treatment group did not have favorable outcome including acute coronary syndromes, receiving coronary intervention, cerebral vascular events, peripheral artery disease, heart failure and overall mortality. The results remain similar between groups before and after propensity score matching. Moreover, there was no significant difference in outcomes between ACEI/ARB treatment over 50% of follow-up period and without ACEI/ARB treatment after propensity score matching. Conclusions: We found ACEI or ARB usage is not associated with a reduction of cardiovascular events and survival benefit in our nationwide cohort study of ADPKD patient on dialysis from Taiwan. Further larger scale, multicenter and randomized control trials are warranted to show the causal association.

scholarly journals Utility of ultrasonography in the diagnosis of autosomal dominant polycystic kidney disease in children.

1997 ◽  
Vol 8 (1) ◽  
pp. 105-110
Author(s):  
P A Gabow ◽  
W J Kimberling ◽  
J D Strain ◽  
M L Manco-Johnson ◽  
A M Johnson
Keyword(s):  
Kidney Disease ◽  
Polycystic Kidney Disease ◽  
Autosomal Dominant ◽  
False Positive Rate ◽  
False Negative ◽  
False Negative Rate ◽  
Polycystic Kidney ◽  
Negative Rate ◽  
Affected Parent ◽  
Autosomal Dominant Polycystic Kidney

To determine the utility of ultrasonography (US) in diagnosing autosomal dominant polycystic kidney disease (ADPKD) in children, this study examined 106 children who were at 50% risk for the disease. The children underwent a history, physical examination, abdominal US, and gene linkage analysis (GLA) with tightly linked markers for ADPKD1 and ADPKD2 genes. Only ADPKD1 children were studied. A child was considered affected by US if any cysts were detected and affected by GLA if he or she shared the same haplotype as the affected parent. Forty-two children (40%) were considered to be unaffected by both GLA and US. Forty-eight children (45%) were considered affected by both modalities. Only two of these children had a single cyst. Fourteen children (13%) were considered affected by GLA with normal initial US. These children tended to have larger kidneys than children who were unaffected by GLA. Eight of these 14 children had subsequent positive ultrasonograms. Two children had a positive ultrasonogram with GLA showing them to be unaffected; in one of these children, a subsequent ultrasonogram was interpreted to be normal with a medullary pyramid. Thus, overall the false negative rate was 25%, and the false positive rate was 2%. The false negative rate was highest in the children who were 3 months to 5 years of age (38%). Clinicians must understand the utility of US in diagnosing ADPKD in at-risk children and must not interpret a normal study as absence of disease in this population.

scholarly journals Complications in Patients With Autosomal Dominant Polycystic Kidney Disease Undergoing Ureteroscopy: A Cohort Study

2020 ◽  
Vol 7 ◽  
pp. 205435812097283
Author(s):  
Vinusha Kalatharan ◽  
Blayne Welk ◽  
Danielle M. Nash ◽  
Eric McArthur ◽  
Justin Slater ◽  
...  
Keyword(s):  
Emergency Department ◽  
Cohort Study ◽  
Urinary Tract ◽  
Kidney Disease ◽  
Hospital Admission ◽  
Polycystic Kidney Disease ◽  
Emergency Department Visit ◽  
Autosomal Dominant ◽  
Polycystic Kidney ◽  
Autosomal Dominant Polycystic Kidney

Background: Ureteroscopy 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. Objective: To compare the 30-day risk of ureteroscopic complications between patients with and without ADPKD. Design: Retrospective cohort study. Setting: Ontario, Canada Patients: Seventy 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. Measurements: A 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. Methods: We 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. Results: The 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). Limitations: The low numbers of events led to imprecision around the estimates. Conclusion: Patients with ADPKD have a higher risk of return to the hospital within 30 days of ureteroscopy for stone disease. Trial registration: We did not register this study.

scholarly journals Mainstreaming Genetic Testing for Adult Patients With Autosomal Dominant Polycystic Kidney Disease

2021 ◽  
Vol 8 ◽  
pp. 205435812110550
Author(s):  
Mark D. Elliott ◽  
Leslie C. James ◽  
Emily L. Simms ◽  
Priyana Sharma ◽  
Louis P. Girard ◽  
...  
Keyword(s):  
Health Care ◽  
Genetic Testing ◽  
Kidney Disease ◽  
Polycystic Kidney Disease ◽  
Retrospective Cohort ◽  
Autosomal Dominant ◽  
Return Of Results ◽  
Publicly Funded ◽  
Polycystic Kidney ◽  
Autosomal Dominant Polycystic Kidney

Purpose: Genetic testing results are currently obtained approximately 1 year after referral to a medical genetics team for autosomal dominant polycystic kidney disease (ADPKD). We evaluated a mainstream genetic testing (MGT) pathway whereby the nephrology team provided pre-test counseling and selection of patients with suspected ADPKD for genetic testing prior to direct patient interaction by a medical geneticist. Sources of information: A multidisciplinary team of nephrologists, genetic counselors, and medical geneticists developed an MGT pathway for ADPKD using current testing criteria for adult patient with suspected ADPKD and literature from MGT in oncology. Methods: An MGT pathway was assessed using a prospective cohort and compared to a retrospective cohort of 56 patients with ADPKD who received genetic testing using the standard, traditional pathway prior to implementing the MGT for ADPKD. The mainstream pathway was evaluated using time to diagnosis, diagnostic yield, and a patient survey to assess patient perceptions of the MGT pathway. Key findings: We assessed 26 patients with ADPKD using the MGT and 18 underwent genetic testing with return of results. Of them, 52 patients had data available for analysis in the traditional control cohort. The time for return of results using our MGT pathway was significantly shorter with a median time to results of 6 months compared to 12 months for the traditional pathway. We identified causative variants in 61% of patients, variants of uncertain significance in 28%, and 10% had negative testing which is in line with expectations from the literature. The patient surveys showed high satisfaction rates with the MGT pathway. Limitations: This report is an evaluation of a new genetic testing pathway restricted to a single, publicly funded health care center. The MGT pathway involved a prospective collection of a limited number of patients with ADPKD with comparison to a retrospective cohort of patients with ADPKD evaluated by standard testing. Implications: A MGT pathway using clearly defined criteria and commercially available gene panels for ADPKD can be successfully implemented in a publicly funded health care system to reduce the time required to obtain genetic results.

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