Additional Relevant Intracranial Findings in Persons Screened with MR for Intracranial Aneurysms.

BACKGROUND: Radiological screening for intracranial aneurysms (IAs) may identify other relevant intracranial findings. We investigated their prevalence on MR in persons screened for IAs. METHODS: We included all persons who were screened for the presence of IAs with brain MRI/MRA between 1996 and 2022 because of a family history of aneurysmal subarachnoid haemorrhage (aSAH) or autosomal dominant polycystic kidney disease (ADPKD). We reviewed radiology reports of initial and repeated brain MR to identify additional intracranial findings that needed follow-up or treatment, or carried a risk of becoming symptomatic. RESULTS: We included 766 persons (positive family history of aSAH: n = 681; ADPKD: n = 85) who had 1446 MRI/MRAs. At initial screening, 49 additional relevant intracranial findings were reported in 47 persons (6.1%, 95% CI 4.7-8.1%). Of all included persons, 338 (44%) underwent one (n = 154) or more (n = 184) follow-up screenings (total MRI/MRAs at follow-up: n = 680). In 15/338 persons (4.4%, 95% CI 2.7-7.2%), 16 new additional relevant findings were reported at a median follow-up duration of 10 years (IQR 5-12). CONCLUSIONS: Persons who are counselled for screening for IAs should be informed that there is a six percent chance of identifying an additional finding that requires follow-up or treatment, or may become symptomatic. Additionally, after 10-year follow-up screening there is a four percent chance of identifying a new additional relevant finding. The impact of such findings on quality of life needs further study.

Characterizing the impact of the Covid-19 pandemic on adults with autosomal dominant polycystic kidney disease: a cross-sectional study.

BACKGROUND: The Covid-19 pandemic greatly affected those with chronic diseases, impacting healthcare access and healthcare seeking behaviors. The impact of the pandemic on adults with Autosomal Dominant Polycystic Kidney Disease (ADPKD) has not been investigated. METHODS: Participants were recruited from a cohort of 239 ADPKD patients enrolled in a longitudinal study at the University of Maryland. Patients on renal replacement therapy were excluded. N = 66 patients participated in a phone questionnaire from June 2022-December 2022 about ADPKD-related complications, concern about contracting Covid-19, healthcare-seeking behaviors, and telehealth utilization before and after March 2020. RESULTS: N = 34 (51.5%) of participants reported a positive Covid-19 test result. N = 29 (44%) expressed high concern of contracting Covid-19. Those who avoided medical care at least once (N = 17, 25.8%) had similar demographics and ADPKD severity to those who did not, but reported greater telehealth utilization (88.2% vs. 42.9%, p = 0.002), greater use of non-prescribed medication for Covid-19 treatment or prevention (35.3% vs. 8.2%, p = 0.01), and were more likely to contract Covid-19 (76.5% vs. 42.9%, p = 0.02). Among the N = 53 who reported very good or excellent ADPKD disease management pre-pandemic, N = 47(89%) reported no significant change during the pandemic. CONCLUSIONS: In this highly educated, high-income cohort with a mean age of 46.1 years, most people reported well-managed ADPKD prior to the pandemic. This may explain why less than half of participants expressed high concern for contracting Covid-19. Overall, there was no significant pandemic-related decline in self-reported ADPKD management. This was likely due to this cohort's excellent access to, and uptake of, telehealth services. Notably, 1 in 4 participants reported healthcare avoidant behavior, the effect of which may only be seen years from now. Future studies should investigate potential impacts of avoidant behaviors, as well as expand investigation to a more diverse cohort whose care may not have been as easily transitioned to telehealth.

Overview of clinical status, treatment, and long-term outcomes of pediatric autosomal-dominant polycystic kidney disease: a nationwide survey in Taiwan.

This retrospective study investigated the incidence, medication use, and outcomes in pediatric autosomal-dominant polycystic kidney disease (ADPKD) using Taiwan's National Health Insurance Research Database (NHIRD). A 1:4 matched control group of individuals included in the NHIRD during the same period was used for comparative analyses. A total of 621 pediatric patients were identified from 2009 to 2019 (mean age, 9.51 ± 6.43 years), and ADPKD incidence ranged from 2.32 to 4.45 per 100,000 individuals (cumulative incidence, 1.26-1.57%). The incidence of newly developed hypertension, anti-hypertensive agent use, nephrolithiasis, and proteinuria were significantly higher in the ADPKD group than the non-ADPKD group (0.7 vs. 0.04, 2.26 vs. 0.30, 0.4 vs. 0.02, and 0.73 vs. 0.05 per 100 person-years, respectively). The adjusted hazard ratios for developing hypertension, proteinuria, nephrolithiasis and anti-hypertensive agent use in cases of newly-diagnosed pediatric ADPKD were 12.36 (95% CI 4.92-31.0), 13.49 (95% CI 5.23-34.79), 13.17 (95% CI 2.48-69.98), and 6.38 (95% CI 4.12-9.89), respectively. The incidence of congenital cardiac defects, hematuria, urinary tract infections, gastrointestinal diverticulosis, dyslipidemia, and hyperuricemia were also higher in the ADPKD group. Our study offers valuable insights into the epidemiology of pediatric ADPKD in Taiwan and could help in formulating guidelines for its appropriate management.

Protocol for the nationwide registry of patients with polycystic kidney disease: japanese national registry of PKD (JRP).

BACKGROUND: Autosomal dominant polycystic kidney disease (ADPKD) and autosomal recessive polycystic kidney disease (ARPKD) are major genetic polycystic kidney diseases that can progress to end-stage kidney disease (ESKD). Longitudinal data on the clinical characteristics associated with clinical outcomes in polycystic kidney disease (PKD), including the development of ESKD and cardiovascular disease (CVD) are lacking in Japan. To address this unmet need the authors are establishing a novel, web-based, Nationwide Cohort Registry Study-the Japanese Registry of PKD (JRP). METHODS: The JRP is a prospective cohort study for ADPKD (aim to recruit n = 1000 patients), and both a retrospective and prospective study for ARPKD (aim to recruit n = 100). In the prospective registry, patients will be followed-up for 10 years every 6 months and 12 months for patients with ADPKD and ARPKD, respectively. Data collection will be recorded on Research Electronic Data Capture (REDCap) starting on April 1, 2024, with recruitment ending on March 31, 2029. (jRCT 1030230618). RESULTS: Data to be collected include: baseline data, demographics, diagnostic and genetic information, radiological and laboratory findings, and therapeutic interventions. During follow-up, clinical events such as development of ESKD, hospitalization, occurrence of extra kidney complications including CVD events, and death will be recorded, as well as patient-reported health-related quality of life for patients with ADPKD. CONCLUSIONS: The JRP is the first nationwide registry study for patients with ADPKD and ARPKD in Japan, providing researchers with opportunities to advance knowledge and treatments for ADPKD and ARPKD, and to inform disease management and future clinical practice.

Prevalence of Renal Neoplasia in Autosomal Dominant Polycystic Kidney Disease: Systematic Review and Meta-Analysis.

BACKGROUND: Autosomal dominant polycystic kidney disease (ADPKD) is a common inherited condition; however, its relationship with renal cell carcinoma (RCC) remains unclear. This paper aims to establish the prevalence of RCC and its subtypes amongst ADPKD patients. METHODS: A database search was conducted to retrieve studies reporting RCC occurrence within ADPKD patients until July 2023. Key outcomes included number and subtype of RCC cases, and number of RCCs presenting incidentally. A random-effects meta-analysis was performed. RESULTS: Our search yielded 569 articles, 16 met the inclusion criteria. Nephrectomy specimens from 1,147 ADPKD patients were identified. Of studies reporting per-kidney results (n = 13), 73 RCCs were detected amongst 1,493 kidneys, equating to a per-kidney prevalence of 4.3% (95% CI, 3.1-5.7, I2 = 15.7%). 75 ADPKD patients were found to have RCC (75/1,147), resulting in a per-person prevalence of 5.7% (95% CI, 3.7-7.9, I2 = 40.3%) (n = 16). As 7 patients had bilateral disease, 82 RCCs were detected in total. Of these, 39 were clear cell RCC, 35 were papillary and 8 were other. As such, papillary RCCs made up 41.1% (95% CI, 25.9-56.9, I2 = 18.1%) of detected cancers. The majority of RCCs were detected incidentally (72.5% [95% CI, 43.7-95.1, I2 = 66.9%]). CONCLUSION: ADPKD appears to be associated with the papillary RCC subtype. The clinical implications of these findings are unclear, however, may become apparent as outcomes and life expectancy amongst APDKD patients improve.

Cardiometabolic comorbidities in autosomal dominant polycystic kidney disease: a 16-year retrospective cohort study.

BACKGROUND: Autosomal-dominant polycystic kidney disease (ADPKD) is the most prevalent hereditary kidney disease and the fourth leading cause of end-stage renal disease (ESRD) requiring renal replacement therapy (RRT). Nevertheless, there is a paucity of epidemiological research examining the risk factors and survival on RRT for ADPKD. Thus, we aimed to investigate the cumulative effects of cardiometabolic comorbidities, including hypertension (HTN), type 2 diabetes mellitus (DM), and dyslipidemia (DLP) to clinical outcomes in ADPKD. METHODS: We identified 6,142 patients with ADPKD aged ≥ 20 years from 2000 to 2015 using a nationwide population-based database. HTN, DM, and DLP diagnoses before or at the time of ADPKD diagnosis and different combinations of the three diagnoses were used as the predictors for the outcomes. Survival analyses were used to estimate the adjusted mortality risk from cardiometabolic comorbidities and the risk for renal survival. RESULTS: Patients with ADPKD who developed ESRD had the higher all-cause mortality (HR, 5.14; [95% CI: 3.88-6.80]). Patients with all three of the diseases had a significantly higher risk of entering ESRD (HR:4.15, [95% CI:3.27-5.27]), followed by those with HTN and DM (HR:3.62, [95% CI:2.82-4.65]), HTN and DLP (HR:3.54, [95% CI:2.91-4.31]), and HTN alone (HR:3.10, [95% CI:2.62-3.66]) compared with those without any three cardiometabolic comorbidities. CONCLUSIONS: Our study discovered the cumulative effect of HTN, DM, and DLP on the risk of developing ESRD, which reinforces the urgency of proactive prevention of cardiometabolic comorbidities to improve renal outcomes and overall survival in ADPKD patients.

Autosomal dominant polycystic kidney disease in Colombia.

BACKGROUND: Autosomal dominant polycystic kidney disease (ADPKD) is the most common genetic cause of chronic kidney disease (CKD) that requires dialysis. Knowing geographical clusters can be critical for early diagnosis, progression control, and genetic counseling. The objective was to establish the prevalence, geographic location, and ethnic groups of patients with ADPKD who underwent dialysis or kidney transplant in Colombia between 2015 and 2019. METHODS: We did a cross-sectional study with data from the National Registry of Chronic Kidney Disease (NRCKD) managed by the High-Cost Diseases Fund (Cuenta de Alto Costo [CAC] in Spanish) between July 1, 2015, and June 30, 2019. We included Colombian population with CKD with or without renal replacement therapy (RRT) due to ADPKD. Crude and adjusted prevalence rates were estimated by state and city. RESULTS: 3,339 patients with ADPKD were included, period prevalence was 9.81 per 100,000 population; there were 4.35 cases of RRT per 100,000 population, mean age of 52.58 years (± 13.21), and 52.78% women. Seventy-six patients were Afro-Colombians, six were indigenous, and one Roma people. A total of 46.07% began scheduled dialysis. The highest adjusted prevalence rate was in Valle del Cauca (6.55 cases per 100,000 population), followed by Risaralda, and La Guajira. Regarding cities, Cali had the highest prevalence rate (9.38 cases per 100,000 population), followed by Pasto, Medellin, and Bucaramanga. CONCLUSIONS: ADPKD prevalence is lower compared to Europe and US; some states with higher prevalence could be objective to genetic prevalence study.

Large-scale epidemiological study on feline autosomal dominant polycystic kidney disease and identification of novel PKD1 gene variants.

OBJECTIVES: Autosomal dominant polycystic kidney disease (ADPKD) is a common inherited disease in cats. In most cases, the responsible abnormality is a nonsense single nucleotide polymorphism in exon 29 of the PKD1 gene (chrE3:g.42858112C>A, the conventional PKD1 variant). The aim of this study was to conduct a large-scale epidemiological study of ADPKD caused by the conventional PKD1 variant in Japan and to search for novel polymorphisms by targeted resequencing of the PKD1 using a next-generation sequencer. METHODS: A total of 1281 cats visiting the Veterinary Medical Center of the University of Tokyo were included in this study. DNA was extracted from the blood of each cat. We established a novel TaqMan real-time PCR genotyping assay for the conventional PKD1 variant, and all cases were examined for the presence of this variant. Targeted resequencing of all exons of the PKD1 was performed on the DNA of 23 cats with the conventional PKD1 variant, six cats diagnosed with cystic kidneys but without this variant, and 61 wild-type normal cats. RESULTS: Among the 1281 cats examined in this study, 23 (1.8%) harboured the conventional PKD1 variant. The odds of having the conventional PKD1 variant were significantly higher in Persian cats, Scottish Folds and Exotic Shorthairs than in the other breeds, although the number of cases in each breed was small. Furthermore, we identified four variants unique to cats with cystic kidneys that were not found in wild-type normal cats, all of which were in exon 15. In particular, two (chrE:g.42848725delC, pGly1641fs and chrE:g.42850283C>T, pArg2162Trp) were candidate variants. CONCLUSIONS AND RELEVANCE: This study revealed that the conventional PKD1 variant was prevalent in Scottish Fold, Persian and Exotic Shorthair breeds in Japan, and variants in exon 15 of PKD1, in addition to the conventional variant in exon 29, would be key factors in the pathogenesis of ADPKD in cats.

Individuals heterozygous for ALG8 protein-truncating variants are at increased risk of a mild cystic kidney disease.

ALG8 protein-truncating variants (PTVs) have previously been described in patients with polycystic liver disease and in some cases cystic kidney disease. Given a lack of well-controlled studies, we determined whether individuals heterozygous for ALG8 PTVs are at increased risk of cystic kidney disease in a large, unselected health system-based observational cohort linked to electronic health records in Pennsylvania (Geisinger-Regeneron DiscovEHR MyCode study). Out of 174,172 patients, 236 were identified with ALG8 PTVs. Using ICD-based outcomes, patients with these variants were significantly at increased risk of having any kidney/liver cyst diagnosis (Odds Ratio 2.42, 95% confidence interval: 1.53-3.85), cystic kidney disease (3.03, 1.26-7.31), and nephrolithiasis (1.89, 1.96-2.97). To confirm this finding, blinded radiology review of computed tomography and magnetic resonance imaging studies was completed in a matched cohort of 52 thirty-plus year old ALG8 PTV heterozygotes and related non-heterozygotes. ALG8 PTV heterozygotes were significantly more likely to have cystic kidney disease, defined as four or more kidney cysts (57.7% vs. 7.7%), or bilateral kidney cysts (69.2% vs. 15.4%), but not one or more liver cyst (11.5% vs. 7.7%). In publicly available UK Biobank data, ALG8 PTV heterozygotes were at significantly increased risk of ICD code N28 (other disorders of kidney/ureter) (3.85% vs. 1.33%). ALG8 PTVs were not associated with chronic kidney disease or kidney failure in the MyCode study or the UK Biobank data. Thus, PTVs in ALG8 result in increased risk of a mild cystic kidney disease phenotype.

Renin-angiotensin system activation: may it increase frequency of obstructive sleep apnea in patients with autosomal dominant polycystic kidney disease?

PURPOSE: Renin-angiotensin system (RAS) hyperactivity is a common entity in both autosomal dominant polycystic kidney disease (ADPKD) and obstructive sleep apnea (OSA). We aimed to investigate the frequency of OSA in adults with ADPKD either with stages 3-4 or stages 1-2 chronic kidney disease (CKD) and evaluate the effect of RAS blockade on OSA in these patients. METHODS: This is a comparative, prospective, two-center clinical study. Eligible patients with ADPKD were enrolled in a polysomnography (PSG) study. Presence of OSA in patients with ADPKD was compared with individuals who underwent polisomnography study due to OSA symptoms. A subgroup analysis was performed in terms of the presence of OSA in ADPKD with eGFR values lower or higher than 60 ml/min/1.73 m2 (stages 3-4 and stages 1-2 CKD, respectively). RESULTS: Frequency of OSA (65%) was higher than in the general population and similar between the two groups (p = 0.367). Patients with ADPKD and eGFR ≥ 60 ml/min/1.73 m2 presented a similar frequency of OSA to the control group (p = 0.759). However, OSA was significantly more frequent in ADPKD with eGFR < 60 ml/min/1.73 m2 (p = 0.018). Subgroup analysis revealed that presence of OSA also was significantly higher in ADPKD with lower eGFR levels (eGFR < 60 ml/min/1.73 m2 and eGFR > 60 ml/min/1.73 m2) 14/17 (82%) and 12/23 (52%), respectively (p: 0.048). CONCLUSION: As kidney disease progresses, uremia and related factors of renal failure rather than RAS activation seem to play a more important role for the development of OSA in patients with ADPKD.

Prevalence of cardiac valvar abnormalities in children and young people with autosomal dominant polycystic kidney disease.

BACKGROUND: Valvar abnormalities in children and adults with autosomal dominant polycystic kidney disease (ADPKD) have previously been reported as a frequent occurrence. Mitral valve prolapse (MVP), in particular, has been reported in almost one-third of adult patients and nearly 12% of children with ADPKD. Our objective in this study was to establish the prevalence of valvar abnormalities in a large, contemporary series of children and young people (CYP) with ADPKD. METHODS: A retrospective, single centre, cross-sectional analysis of the echocardiograms performed on all consecutive children seen in a dedicated paediatric ADPKD clinic. Full anatomical and functional echocardiograms were performed and analysed for valvar abnormalities. RESULTS: The echocardiograms of 102 CYP with ADPKD (range 0.25-18 years, mean age 10.3 years, SD ± 5.3 years) were analysed. One (0.98%), 3-year-old boy, had MVP. There was no associated mitral regurgitation. Evaluating variations in normal valvar anatomy, 9 (8.8%) patients, aged 7.1 to 18 years, had minor bowing ± visual elongation of either the anterior or posterior leaflet of the mitral valve, none of which fell within the criteria of true MVP. Three (1.9%) patients, 2 boys and 1 girl aged between 7 and 14 years, had trivial or mild aortic regurgitation. No patients had echocardiographic evidence of tricuspid valve prolapse (TVP). CONCLUSION: In this contemporary cohort of CYP with ADPKD, the incidence of MVP and other valvar lesions is significantly lower than previously reported. A higher resolution version of the Graphical abstract is available as Supplementary information.

Health Disparities in Autosomal Dominant Polycystic Kidney Disease (ADPKD) in the United States.

BACKGROUND AND OBJECTIVES: Autosomal dominant polycystic kidney disease (ADPKD) occurs at conception and is often diagnosed decades prior to kidney failure. Nephrology care and transplantation access should be independent of race and ethnicity. However, institutional racism and barriers to health care may affect patient outcomes in ADPKD. We sought to ascertain the effect of health disparities on outcomes in ADPKD by examining age at onset of kidney failure and access to preemptive transplantation and transplantation after dialysis initiation. DESIGN, SETTING, PARTICIPANTS, & MEASUREMENTS: Retrospective cohort analyses of adults with ADPKD in the United States Renal Data System from January 2000 to June 2018 were merged to US Census income data and evaluated by self-reported race and ethnicity. Age at kidney failure was analyzed in a linear model, and transplant rates before and after dialysis initiation were analyzed in logistic and proportional hazards models in Black and Hispanic patients with ADPKD compared with White patients with ADPKD. RESULTS: A total of 41,485 patients with ADPKD were followed for a median of 25 (interquartile range, 5-54) months. Mean age was 56±12 years; 46% were women, 13% were Black, and 10% were Hispanic. Mean ages at kidney failure were 55±13, 53±12, and 57±12 years for Black patients, Hispanic patients, and White patients, respectively. Odds ratios for preemptive transplant were 0.33 (95% confidence interval, 0.29 to 0.38) for Black patients and 0.50 (95% confidence interval, 0.44 to 0.56) for Hispanic patients compared with White patients. Transplant after dialysis initiation was 0.61 (95% confidence interval, 0.58 to 0.64) for Black patients and 0.78 (95% confidence interval, 0.74 to 0.83) for Hispanic patients. CONCLUSIONS: Black and Hispanic patients with ADPKD reach kidney failure earlier and are less likely to receive a kidney transplant preemptively and after initiating dialysis compared with White patients with ADPKD.

Does autosomal dominant polycystic kidney disease increase the risk of aortic aneurysm or dissection: a point of view based on a systematic review and meta-analysis.

Autosomal Dominant Polycystic Kidney Disease (ADPKD) has several renal and extra-renal manifestations. Studies have reported a higher incidence of aortic aneurysms (AAs)/aortic dissections (ADs) in these patients, and we believe ADPKD should be considered as a risk factor for AA/AD. In order to support our opinion we conducted a systematic review and meta-analysis analyzing the risk of AA/AD in ADPKD patients.We searched MEDLINE, CENTRAL, PsycInfo, Web of Science Core Collection and OpenGrey for observational studies reporting frequency estimates of AA/AD in ADPKD patients compared with controls. We analyzed the odds ratio (OR) of the existence of an AA/AD in patients with ADPKD compared to controls. We also analyzed the odds of having an AA in patients with ADPKD compared to controls, the odds of having an AD in patients with ADPKD compared to controls, differences among subtypes of AA or AD, differences according to age, gender and different study designs.Seven observational studies were included. ADPKD was associated with a higher risk of AA or AD as compared with a population without the disease (OR 4.33; 95% CI 2.69; 6.97, p < 0.001); higher risk of AA (OR 4.18; 95% CI 2.36; 7.40, p < 0.001) and higher risk of AD (OR 9.08; 95% CI 3.11; 26.55, p < 0.001).Our point of view, suggesting the inclusion of aortic aneurysms and aortic dissection in the potential complications of ADPKD, was supported by our systematic review and meta-analysis showing that ADPKD was associated with a significant risk of having/developing an AA/AD. However, the risk of bias of included studies was considered high and these results should be interpreted cautiously. This association should be considered in clinical practice, although further studies are needed to consolidate these findings.

Diagnosis and risk factors for intracranial aneurysms in autosomal polycystic kidney disease: a cross-sectional study from the Genkyst cohort.

BACKGROUND: Autosomal dominant polycystic kidney disease (ADPKD) is associated with an increased risk for developing intracranial aneurysms (IAs). We aimed to evaluate the frequency of diagnosis of IAs in the cross-sectional, population-based, Genkyst cohort, to describe ADPKD-associated IAs and to analyse the risk factors associated with the occurrence of IAs in ADPKD patients. METHODS: A cross-sectional study was performed in 26 nephrology centres from the western part of France. All patients underwent genetic testing for PKD1/PKD2 and other cystogenes. RESULTS: Among the 2449 Genkyst participants, 114 (4.65%) had a previous diagnosis of ruptured or unruptured IAs at inclusion, and ∼47% of them had a positive familial history for IAs. Most aneurysms were small and saccular and located in the anterior circulation; 26.3% of the patients had multiple IAs. The cumulative probabilities of a previous diagnosis of IAs were 3.9%, 6.2% and 8.1% at 50, 60 and 70 years, respectively. While this risk appeared to be similar in male and female individuals <50 years, after that age, the risk continued to increase more markedly in female patients, reaching 10.8% versus 5.4% at 70 years. The diagnosis rate of IAs was >2-fold higher in PKD1 compared with PKD2, with no influence of PKD1 mutation type or location. In multivariate analysis, female sex, hypertension <35 years, smoking and PKD1 genotype were associated with an increased risk for diagnosis of IAs. CONCLUSIONS: This study presents epidemiological data reflecting real-life clinical practice. The increased risk for IAs in postmenopausal women suggests a possible protective role of oestrogen.

Association of autosomal dominant polycystic kidney disease with cardiovascular disease: a US-National Inpatient Perspective.

PURPOSE: Data on the epidemiology of cardiovascular diseases (CVD) in patients with autosomal dominant polycystic kidney disease (ADPKD) are limited. In this study, we assess the prevalence of CVD in patients with ADPKD and evaluate associations between these two entities. METHODS: Using the National Inpatient Sample database, we identified 71,531 hospitalizations among adults aged ≥ 18 years with ADPKD, from 2006 to 2014 and collected relevant clinical data. RESULTS: The prevalence of CVD in the study population was 42.6%. The most common CVD were ischemic heart diseases (19.3%), arrhythmias (14.2%), and heart failure (13.1%). The prevalence of CVD increased with the severity of renal dysfunction (RD). We found an increase in hospitalizations of patients with ADPKD and CVD over the years (ptrend < 0.01), irrespective of the degree of RD. CVD was the greatest independent predictor of mortality in these patients (OR: 3.23; 95% CI 2.38-4.38 [p < 0.001]). In a propensity matched model of hospitalizations of patients with CKD with and without ADPKD, there was a significant increase in the prevalence of atrial fibrillation/flutter (AF), pulmonary hypertension (PHN), non-ischemic cardiomyopathy (NICM), and hemorrhagic stroke among patients with ADPKD when compared to patients with similar degree of RD without ADPKD. CONCLUSIONS: The prevalence of CVD is high among patients with ADPKD, and the most important risk factor associated with CVD is severity of RD. We found an increase in the trend of hospitalizations of patients with ADPKD associated with increased risk of AF, PHN, NICM, and hemorrhagic stroke. History of CVD is the strongest predictor of mortality among patients with ADPKD.

The effects of the renin-angiotensin-aldosterone system blockers on serum ischemia-modified albumin levels in autosomal dominant polycystic kidney disease.

BACKGROUND: Among one of the common hereditary causes of chronic kidney disease is autosomal-dominant polycystic kidney disease (ADPKD), and its incidence rate is reported as one between 500 and 1.000 individuals. The most common complications of ADPKD are hypertension (HT) and end-stage renal disease (ESRD). HT occurring in the early stage of ADPKD leads to deteriorations in renal function. AIMS: It was aimed to investigate the ischemia-modified albumin (IMA) levels and the effect of renin-angiotensin-aldosterone system (RAAS) blockers on serum IMA levels in patients with ADPKD. METHODS: One hundred and fifteen patients were included as ADPKD (n = 50), HT (n = 35), and healthy control (HC) groups (n = 30). Patients with ADPKD and HT were divided into two subgroups as RAAS blocker-users and non-users. RESULTS: Serum IMA levels were detected as 0.42 (0.17-0.80) in ADPKD and 0.28 (0.04-0.51) in HT and 0.36 (0.22-0.56) in HC groups as absorbance units (ABSU), and the highest serum IMA level was seen in Group ADPKD. Serum IMA levels were 0.33 ± 0.14 in RAAS blocker-users and 0.41 ± 0.11 ABSU in non-users with ADPKD. Serum IMA levels were witnessed to be significantly lower in RAAS blocker-users in Groups ADPKD (p = 0.038) and HT (p = 0.004), compared to non-users. Given basal and 6-month values of those with ADPKD, the levels of serum IMA within 6 months were significantly lower (p = 0.002). CONCLUSIONS: We consider that serum IM levels should be assessed in oxidative stress (OS)-related conditions, such as ADPKD, and RAAS blockers may be effective in reducing serum IMA levels in ADPKD and HT patients.

Epidemiological estimates and early detection of polycystic kidney disease by ultrasonographic assessment in Japan.

AIMS: To estimate the prevalence of autosomal dominant polycystic kidney disease (ADPKD) and provide the evaluation of new ultrasonographic criteria and clinical indicators to help its early detection. MATERIALS AND METHODS: A total of 30750 individuals for health check-up with abdominal ultrasonography (US) were included, in which 231 suspects of ADPKD based on the number of renal cysts were extracted. They were divided into 4 groups by the grade of suspicion (definitive, a strong suspect, a fair suspect and a weak suspect). Longitudinal data of US and renal function tests were compared between the groups.The estimated prevalence rate was 0.068% from the study subjects. The level of eGFR did not differ between the definitive and suspects, while the annual estimated glomerular filtration ratio (eGFR) decline was significantly larger in the former (p<0.001). The subjects with growing renal cysts showed a larger annual eGFR decline than those without growth (p=0.0324). The proposed cut-off set at the first quartile of the annualized eGFR change efficiently divided the subjects according to the presence of cyst growth (p= 0.027) and the grade of suspicion of ADPKD (p=0.028). CONCLUSION: The prevalence rate of ADPKD was higher than the corresponding rate previously reported in Japan (0.025%), suggesting that health check-ups may be an efficient opportunity to pick up undiagnosed ADPKD. The large annual eGFR decline and the presence of growing cysts may be feasible indicators to isolate ADPKD and should be introduced into US based screening to facilitate early detectionof ADPKD.

Primary prevention of cardiovascular disease events with renin-angiotensin system blockade in autosomal dominant polycystic kidney disease dialysis patients: A nationwide cohort study.

ABSTRACT: Although renin-angiotensin system (RAS) 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. 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. All study subjects were followed up for more than 3 months. There was no significant difference between the ACEI/ARB treatment group and the control group in incident CVD events except ischemic stroke and transient ischemic accident (TIA). 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. This nationwide cohort study failed to prove the protective effects of long-term ACEI or ARB on incident CVD events among APKD dialysis patients. Further larger scale, multicenter and randomized control trials are warranted to show the causal association.