Characteristics and Distribution of Intracranial Aneurysms in Patients with Autosomal Dominant Polycystic Kidney Disease Compared with the General Population: A Meta-Analysis.
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SUBMITTER: Haemmerli J
PROVIDER: S-EPMC10278849 | biostudies-literature | 2023 Apr
REPOSITORIES: biostudies-literature
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Characteristics and Distribution of Intracranial Aneurysms in Patients with Autosomal Dominant Polycystic Kidney Disease Compared with the General Population: A Meta-Analysis.
Haemmerli Julien J Morel Sandrine S Georges Marc M Haidar Fadi F Chebib Fouad T FT Morita Akio A Nozaki Kazuhiko K Tominaga Teiji T Bervitskiy Anatoliy V AV Rzaev Jamil J Schaller Karl K Bijlenga Philippe P
Kidney360 20230220 4
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Project description:Background and objectivesIntracranial aneurysm rupture is the most devastating complication of autosomal dominant polycystic kidney disease. Whether selective or widespread intracranial aneurysm screening is indicated remains controversial.Design, setting, participants & measurementsRecords of 3010 patients with autosomal dominant polycystic kidney disease evaluated at the Mayo Clinic between 1989 and 2017 were reviewed. Those who had presymptomatic magnetic resonance angiography screening were included.ResultsNinety-four intracranial aneurysms were diagnosed in 75 of 812 (9%) patients who underwent magnetic resonance angiography screening. Sex, age, race, and genotype were similar in the groups with and without aneurysms; hypertension and history of smoking were more frequent in the aneurysm group. Twenty-nine percent of patients with aneurysms compared with 11% of those without aneurysms had a family history of subarachnoid hemorrhage (P<0.001). Most aneurysms were small (median diameter =4 mm; range, 2-12 mm); 85% were in the anterior circulation. During a total imaging follow-up of 469 patient-years, de novo intracranial aneurysms were detected in five patients; eight intracranial aneurysms grew (median =2 mm; range, 1-3 mm). During a total clinical follow-up of 668 patient-years, seven patients had preemptive clipping or coil embolization; no intracranial aneurysms ruptured. During a total clinical follow-up of 4783 patient-years in 737 patients with no intracranial aneurysm detected on the first magnetic resonance angiography screening, two patients had an intracranial aneurysm rupture (0.04 per 100 person-years; 95% confidence interval, 0 to 0.10). The rate of intracranial aneurysm rupture in large clinical trials of autosomal dominant polycystic kidney disease was 0.04 per 100 patient-years (95% confidence interval, 0.01 to 0.06).ConclusionsIntracranial aneurysms were detected by presymptomatic screening in 9% of patients with autosomal dominant polycystic kidney disease, more frequently in those with familial history of subarachnoid hemorrhage, hypertension, or smoking. None of the patients with and two of the patients without aneurysm detection on screening suffered aneurysmal ruptures. The overall rupture rate in our autosomal dominant polycystic kidney disease cohort was approximately five times higher than that in the general population.
| S-EPMC6682820 | biostudies-literature
Project description:Presently, only personal or family history of intracranial aneurysm/subarachnoid hemorrhage (IA/SAH) has been established as a risk factor for IA in autosomal dominant polycystic kidney disease (ADPKD). This study aimed to verify the association between kidney function/volume and IAs in patients with ADPKD. This study included 519 patients with ADPKD. At baseline IA screening, the median age and estimated glomerular filtration rate were 44 years and 54.5 mL/min/1.73 m2, respectively. Family IA/SAH history was confirmed in 18.1% of the patients, and 54.3% of the patients had hypertension. The IA point prevalence was 12.5%. During clinical follow up of 3104 patient-years, de novo IA was detected in 29 patients (0.93% patient-years). The IA period prevalence was 18.1% (median age, 60 years). Multivariable logistic regression demonstrated that total kidney volume (TKV) ≥ 1000 mL (odds ratio [OR] = 2.81), height-adjusted TKV ≥ 500 mL (OR = 2.81), Mayo imaging classification Class 1D-1E (OR = 2.52), and chronic kidney disease stages 3-5 (OR = 2.31) were significantly associated with IA formation. IAs in patients with ADPKD may be associated not only with general risk factors for IAs but also with declining kidney function and increased KV. Kidney disease progression may contribute to effective IA screening and treatment planning in patients with ADPKD.
| S-EPMC9613770 | biostudies-literature
Project description:BackgroundDespite a high prevalence of intracranial aneurysm (ICA) in autosomal dominant polycystic kidney disease (ADPKD), rupture events are rare. The current recommendations for ICA screening are based on expert opinions and studies with low levels of evidence.ObjectivesThe aim of our study was to describe the attitudes of practicing nephrologists in Europe towards screening for ICA using magnetic resonance angiography (MRA).MethodsWe conducted a web-based survey among 1315 European French-speaking nephrologists and nephrology residents. An anonymous, electronic questionnaire including 24 independent questions related to ICA screening modalities, indications and participant profiles was sent by email between September and December 2014. Four hundred and twenty nephrologists (mostly from France) participated, including 31 nephrology residents; the response rate was 32%.ResultsSystematic screening for ICA was advocated by 28% of the nephrologists. A family history of ICA rupture, sudden death, stroke and migraine were consensual indications for screening (> 90% of the panel). In other clinical situations largely not covered by the recommendations (pregnancy, nephrectomy, kidney transplantation, cardiac or hepatic surgery, uncontrolled hypertension, lack of familial ADPKD history, at-risk activity, tobacco use), the attitudes towards screening were highly divergent. ICA screening was influenced by nephrologists experience with ADPKD and by their practice setting. The majority of participants (57%) would not repeat a normal ICA screening. Only a few participants (22%) knew that non-contrast MRA was the reference diagnostic tool for ICA screening, whereas most participants thought that contrast enhancement was necessary to screen for ICA. The results from the nephrology residents were analyzed separately and yielded similar results.ConclusionThis practice survey revealed that most nephrologists follow the current recommendations for the initial screening of ICAs. However, more than a quarter of the panel was in favor of systematic ICA screening, most nephrologists did not know that contrast medium was not necessary to screen for ICA using MRA, and many areas of uncertainty remain.
| S-EPMC4824518 | biostudies-literature
Project description:Cardiovascular complications in patients with autosomal dominant polycystic kidney disease (ADPKD) are frequently investigated extrarenal manifestations with contradictory outcomes. The primary goal of this study is to explore the prevalence of cardiovascular abnormalities using echocardiography and analyze their associations with clinical characteristics at different stages of chronic kidney disease (CKD) progression in ADPKD patients. We included sixty-eight patients in the study. All patients underwent transthoracic echocardiography using GE Vingmed Ultrasound (GE Norway Health Tech, Oslo, Norway). Demographic information, prior medical history, and antihypertensive medication use were recorded. To diagnose the rapid progression of CKD, creatinine levels were measured twice, with a one-year interval. Analysis revealed left ventricular hypertrophy (LVH) in over 40% of ADPKD patients, as indicated by various LVH parameters. Notably, a decline in estimated glomerular filtration rate (eGFR) after one year of observation was associated with increased left ventricular mass. Other prevalent findings included asymptomatic left ventricular diastolic dysfunction (ALVDD) in 39% of patients, left atrium (LA) enlargement in 39%, and mild valvular regurgitations in 80%. Ejection fraction, aortic root dimension, and the prevalence of mitral valve prolapse were not significantly increased. Cardiac indices did not differ substantially across the different eGFR stages. LVH, LA enlargement, ALVDD and valvular regurgitations are characteristics of cardiac phenotype in ADPKD. Cardiac indices were not different across different stages of CKD pointing towards the diagnosis of ADPKD being the main drive of their occurrence.
| S-EPMC11612295 | biostudies-literature
Project description: Not available
| S-EPMC11649809 | biostudies-literature
Project description:A 27-year-old woman of autosomal dominant polycystic kidney disease presented with multiple intracranial aneurysms at anterior communicating artery and left middle cerebral artery bifurcation. She was undergoing hemodialysis every alternate day and was waiting for a renal transplantation. Endovascular coiling of both these aneurysms was performed under general endotracheal anesthesia. During the procedure special precaution was taken with regard to intra-procedural fluid management and maintenance of cerebral perfusion pressure. The procedure remained uneventful during which a stable hemodynamics was maintained. In this report, the implication of intraprocedural fluid infusion by the neuroradiologist its possible influence on overall anesthetic management has been described.
| S-EPMC5520603 | biostudies-other
Project description:BackgroundAutosomal dominant polycystic kidney disease (ADPKD) is frequently complicated by intracranial aneurysms (IAs). However, the genetic factors driving the elevated IA risk in ADPKD remain poorly understood. In this study, we identified a novel PKD1 mutation associated with a remarkably high IA incidence in a large Chinese ADPKD family.MethodsWe conducted whole-exome sequencing in a three-generation Chinese ADPKD family (n = 24) characterized by an unusually high IA prevalence. The pathogenicity of the identified PKD1 variant was validated through comprehensive functional studies, including protein localization, calcium signaling, and endothelial cell behavior analyses.ResultsWe discovered a novel PKD1 mutation (c.G10086T) that co-segregated with disease in all affected family members. Notably, 38.1% (8/21) of the mutation carriers developed IAs, a significantly higher rate than reported in general ADPKD populations (4%-11.5%). Functional studies revealed that this mutation disrupted polycystin-1 trafficking and impaired calcium signaling, leading to endothelial dysfunction. In vitro experiments demonstrated enhanced angiogenic potential and compromised vascular integrity in cells expressing mutant PKD1.ConclusionsThe newly identified PKD1:c.G10086T mutation represents a high-risk genetic variant for IA development in ADPKD. Our findings provide new insights into the vascular complications of ADPKD and suggest that PKD1 genotyping may help identify patients requiring intensive IA surveillance. This study supports the development of mutation-specific screening strategies for ADPKD-associated vascular complications.
| S-EPMC11840425 | biostudies-literature
Project description:Autosomal dominant polycystic kidney disease (ADPKD) is an inherited disorder affecting 1 in 1,000 people and responsible for 10% of cases of the end stage renal disease (ESRD). Apart from renal manifestations, changes in other organs may be present. In the absence of contraindications, patients with ADPKD and ESRD should be referred to renal transplantation. The ADPKD patient may also need liver transplantation, or combined liver and kidney transplantation. Also, the patient with ADPKD may become a potential organ donor. The aim of our paper is to review the problems that the physicians deal with in ADPKD patients in pre- and post-transplant period.
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Project description:Autosomal dominant polycystic kidney disease (ADPKD) is an inherited multisystem disorder, characterized by renal and extra-renal fluid-filled cyst formation and increased kidney volume that eventually leads to end-stage renal disease. ADPKD is considered the fourth leading cause of end-stage renal disease in the United States and globally. Care of patients with ADPKD was, for a long time, limited to supportive lifestyle measures, due to the lack of therapeutic strategies targeting the main pathways involved in the pathophysiology of ADPKD. As the first FDA approved treatment of ADPKD, Vasopressin (V2) receptor blocking agent, tolvaptan, is an urgently awaited advance for ADPKD patients. In our review, we also shed some lights on what is beyond Tolvaptan as there are other medications in the pipeline and many medications have been or are currently being studied in clinical trials such as Tesevatinib, Metformin and Pravastatin, with the goal of slowing the rate of progression of ADPKD by reducing the increase in total kidney volume or maintaining eGFR. Here, we review updates in the perspectives and management of ADPKD.
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Project description: Not available
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