Autosomal Dominant Polycystic Kidney Disease Group Research Articles

Clinical characteristics and outcomes of kidney transplantation in autosomal dominant polycystic kidney disease patients.

Kidney transplantation (KT) is the best kidney replacementtreatment for autosomal dominant polycystic kidney disease (ADPKD). We aimed to investigate the clinical characteristics and outcomes of KT in ADPKD patients compared to those in non-ADPKD patients. We retrospectively analyzed KT recipients in two Korean transplantation centers from 2005 to 2020. Propensity score-matching and Cox regression analysis were used to assess the clinical outcomes of ADPKD compared to non-ADPKD and identifyprognostic factors influencing outcomes in ADPKD. Among a total of 4452 KT patients, 189 (4.2%) were ADPKD patients. Median age at transplantation was 53.0 and 47.0 in ADPKD and non-ADPKD patients, respectively. In both groups, living-donor KT was more common than deceased-donor KT. The ADPKD group had a 4.09-fold higher risk of post-transplant diabetes mellitus and a 1.65-fold higher risk of post-transplant infection compared to the non-ADPKD group; however, subjects with ADPKD had similar risk of rejection, graft failure, and mortality. In the ADPKD group, kidney volume decreased after KT, irrespective of kidney volume status (Mayo classification), while the size of hepatic cysts increased. Neither kidney volume nor nephrectomy of native kidneys were associated with risk of infection, graft failure, or mortality in the ADPKD group. ADPKD patients have a higher risk of post-transplant diabetes mellitus and infection than non-ADPKD patients, with no significant impact of kidney volume or nephrectomy on post-transplant outcomes.

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.

Baseline characteristics of the Korean genetic cohort of inherited cystic kidney disease.

Identifying genetic mutations in individuals with inherited cystic kidney disease is necessary for precise treatment. We aimed to elucidate the genetic characteristics of cystic kidney disease in the Korean population. We conducted a 3-year prospective, multicenter cohort study at eight hospitals from May 2019 to May 2022. Patients with more than three renal cysts were enrolled and classified into two categories, typical autosomal dominant polycystic kidney disease (ADPKD) and atypical PKD. We identified the clinical characteristics and performed a genetic analysis using a targeted gene panel. A total of 725 adult patients were included in the study, of which 560 (77.2%) were diagnosed with typical ADPKD and 165 (22.8%) had atypical PKD. Among the typical ADPKD cases, the Mayo imaging classification was as follows: 1A (55, 9.9%), 1B (149, 26.6%), 1C (198, 35.8%), 1D (90, 16.3%), and 1E (61, 11.0%). The atypical PKD cases were classified as bilateral cystic with bilateral atrophic (31, 37.3%), lopsided (27, 32.5%), unilateral (nine, 10.8%), segmental (eight, 9.6%), bilateral cystic with unilateral atrophic (seven, 8.4%), and asymmetric (one, 1.2%). Pathogenic variants were found in 64.3% of the patients using the ciliopathy-related targeted gene panel. The typical ADPKD group demonstrated a higher discovery rate (62.3%) than the atypical PKD group (41.8%). We present a nationwide genetic cohort's baseline clinical and genetic characteristics for Korean cystic kidney disease.

Acceptance of Illness, Satisfaction with Life, and Emotional Control in the Early Stage of Autosomal Dominant Polycystic Kidney Disease

Introduction: Psychological disorders are strong predictors of life expectancy and have an impact on quality of life. Autosomal dominant polycystic kidney disease (ADPKD) is frequently diagnosed before the onset of subjective symptoms. Similar to other disorders of genetic origin, ADPKD may be a source of remarkable psychological discomfort. One way of coping with emotional distress is its suppression, and this could be measured. Our study aimed to provide data on the acceptance of illness, the emotional suppression of anger, and both anxiety and depression as well as satisfaction with life in young patient population of early-stage ADPKD in comparison to healthy demographically matched individuals. Methods: Fifty patients in the asymptomatic stage of ADPKD with an eGFR >60 mL/min (4p MDRD) and 50 healthy demographically matched individuals were included in this study. Participants filled out a set of psychological questionnaires: Acceptance of Illness Scale (AIS), Courtauld Emotional Control Scale (CECS), and Satisfaction with Life Scale (SWLS). Results: Asymptomatic patients with ADPKD had 80% scores indicative of disease acceptance in AIS. As compared to healthy individuals, they presented with significantly stronger suppression of both anxiety and depression but not anger. The ADPKD group had significantly lower satisfaction with life in comparison to the healthy group. Conclusion: Asymptomatic ADPKD patients had a high level of disease acceptance. Anger suppression in this group was comparable to healthy individuals, but anxiety and depression were controlled more intensively. Despite the asymptomatic course of the disease, ADPKD patients revealed lower satisfaction with life in comparison to healthy persons.

Outcomes of Kidney Transplantation in Patients with Autosomal Dominant Polycystic Kidney Disease: Our Experience Based on 35-Years Follow-Up.

Background and objectives: For patients with end-stage renal disease (ESRD), the best replacement therapy is renal transplant (RTx) to ensure life with good quality. Autosomal dominant polycystic kidney disease (ADPKD) is a genetic disorder and a common cause of ESRD. Different from ESRD of other causes, ADPKD patients need careful pre-RTx evaluations like detecting the presence of intracranial aneurisms, cardiac manifestations, and complications of liver and renal cysts. Materials: We retrieved a total of 1327 RTx patients receiving 1382 times RTx (two recipients with three times, 48 recipients with two times) over the last 35 years. Only 41 of these patients were diagnosed with ADPKD. Results: At the first RTx, patients’ ages were 42.9 ± 12.6 (mean ± SD) years. Ages of the ADPKD group (52.5 ± 10.1 years) were older than the non-ADPKD group (42.7 ± 12.7 years, p = 0.001). We found more cell mediated and antibody mediated rejection (29.3% vs. 26.0%, and 22.0% vs. 7.0%; both p < 0.001), new onset diabetes after transplant (NODAT) (21, 51.2% vs. 326, 25.3%; p = 0.005), and worse graft survival (p < 0.001) in the ADPKD group, and with the development of more malignancies (18; 43.9% vs. 360; 28.0%; p = 0.041). The long-term patient survivals were poorer in the ADPKD group (38.9% vs. 70.3%; p = 0.018). ADPKD was found as an independent risk factor for long-term patient survival (HR = 2.64, 95% CI 1.03–6.76, p = 0.04). Conclusions: Patients with ADPKD-related ESRD developed more NODAT, and also more malignancies if not aggressively surveyed before surgery. Due to poor long-term graft and patient survivals, regular careful examinations for NODAT and malignancies, even in the absence of related symptoms and signs, are highly recommended in the follow-ups.

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

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. 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. 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. 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 6months were significantly lower (p = 0.002). 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.

Evidence of retinal arteriolar narrowing in patients with autosomal-dominant polycystic kidney disease

Abstract Introduction The aim of this study was to examine retinal vessels in autosomal dominant polycystic kidney disease (ADPKD) patients with normal kidney function and without diabetes mellitus. Materials and Methods We enrolled 39 adult individuals with ADPKD and 45 gender- and age-matched individuals as controls. A full ophthalmologic examination, including retinal vessel caliber and reactions to flicker stimulation analysis and grading of hypertensive retinopathy according to the Keith-Wagener classification, was performed. Results Multivariable analysis of ADPKD patients and controls, adjusted for age, gender, estimated glomerular filtration rate (e-GFR) and the presence of hypertension, revealed that ADPKD was an independent factor associated with lower arteriovenous ratio (AVR) values (by 0.069 on average, β = −0.50, p &lt; 0.0001). The severity of hypertensive retinopathy according to the Keith-Wagener classification appeared to be more advanced in the ADPKD group than in the controls, despite the lack of vascular abnormalities, such as retinal hemorrhages, exudates, cotton wool spots or papilledema, as well as microaneurysms, which are very characteristic signs of ADPKD in other vascular beds. Conclusions Lower AVR values could be a specific pathophysiological ocular manifestation of systemic vasculopathy in the course of ADPKD.

Evidence of retinal arteriolar narrowing in patients with autosomal-dominant polycystic kidney disease

Abstract Introduction The aim of this study was to examine retinal vessels in autosomal dominant polycystic kidney disease (ADPKD) patients with normal kidney function and without diabetes mellitus. Materials and Methods We enrolled 39 adult individuals with ADPKD and 45 gender- and age-matched individuals as controls. A full ophthalmologic examination, including retinal vessel caliber and reactions to flicker stimulation analysis and grading of hypertensive retinopathy according to the Keith-Wagener classification, was performed. Results Multivariable analysis of ADPKD patients and controls, adjusted for age, gender, estimated glomerular filtration rate (e-GFR) and the presence of hypertension, revealed that ADPKD was an independent factor associated with lower arteriovenous ratio (AVR) values (by 0.069 on average, β = −0.50, p &lt; 0.0001). The severity of hypertensive retinopathy according to the Keith-Wagener classification appeared to be more advanced in the ADPKD group than in the controls, despite the lack of vascular abnormalities, such as retinal hemorrhages, exudates, cotton wool spots or papilledema, as well as microaneurysms, which are very characteristic signs of ADPKD in other vascular beds. Conclusions Lower AVR values could be a specific pathophysiological ocular manifestation of systemic vasculopathy in the course of ADPKD.

Subclinic arterial and left ventricular systolic impairment in autosomal dominant polycystic kidney disease with preserved renal functions.

Subclinical atherosclerosis and cardiovascular events are common even in young normotensive patients with autosomal dominant polycystic kidney disease (ADPKD). Our aim was to examine the relationship between serum fibroblast growth factor-23 (FGF-23) levels, left ventricular global longitudinal strain (LV-GLS), arterial stiffness (AS), and carotid intima-media thickness (CIMT) in patients with ADPKD with preserved kidney function.The relationship between albuminuria, AS, LV-GLS, CIMT, 24-hour ambulatory blood pressure measurement, and FGF-23 was examined in 52 normotensive and hypertensive patients with ADPKD and a matched control group of 35 subjects. AS was assesed with brachial-ankle pulse wave velocity, LV-GLS was measured with speckle-tracking echocardiography. FGF-23 was measured with enzyme-linked immunosorbent assay.The microalbumin/creatinine ratio was significantly higher in the ADPKD group than in the control group (p?<?0.001). Serum FGF-23 levels were similar between the study and control group. LV-GLS value tended to be impaired and CIMT to be higher in the ADPKD group compared to controls (?18.1?±?2.6 vs. -19.4?±?3.1?%, p?=?0.08; 0.75?±?0.1 vs. 0.68?±?0.1 mm, p?=?0.09, respectively). The augmentation index was significantly higher in the ADPKD group than in the control group (26.2?±?12.5 vs. 16.4?±?11.2 mmHg/mmHg, p?=?0.01).Our study supports subclinical impairment in arterial and cardiac functions in the early period of ADPKD. However, none of these factors was found to be associated with serum FGF-23 levels.

Endothelial Dysfunction and Atherosclerosis in Patients With Autosomal Dominant Polycystic Kidney Disease.

IntroductionIn this study, we aimed to determine the endothelial dysfunction (ED) and atherosclerosis in patients with autosomal dominant polycystic kidney disease (ADPKD).Materials and methodsThis study was conducted with 83 subjects (26 male, mean age: 46±11 years) consisted of three groups including ADPKD, hypertension (HT) and healthy control groups. The groups were evaluated in terms of serum endocan and asymmetric dimethylarginine (ADMA) levels, flow-mediated dilatation (FMD), nitroglycerin-mediated dilation (NMD) and carotid intima-media thickness (CIMT).ResultsSerum endocan and ADMA levels and CIMT were significantly higher while NMD was significantly lower in ADPKD group than control group. FMD and NMD were lower but serum ADMA level was higher in the ADPKD group than HT group; while serum endocan level and CIMT were not significantly different in ADPKD and HT groups. In ADPKD patients, CIMT value and serum endocan and ADMA levels were higher while NMD was lower in patients with eGFR≤60 mL/min/1.73 m2 than patients with eGFR>60 mL/min/1.73 m2. Serum ADMA level was higher and NMD was lower in hypertensive ADPKD patients than non-hypertensive ones. Serum endocan level was higher in ADPKD patients with nephrolithiasis and a negative correlation was detected between serum endocan level and 24-hour urine volume.ConclusionsEndothelial dysfunction and atherosclerosis are common conditions in ADPKD patients and it was further reinforced in our study. In order to clarify the relationship between serum endocan level and 24-hour urine volume, which is a remarkable finding in our study, larger studies that including the measurement of urine endocan may be useful.

Evaluation of post-transplant complications, patient and graft survival in patients with autosomal dominant polycystic kidney disease after renal transplantation; A single center experience

Aim: Autosomal dominant polycystic kidney disease (ADPKD) is systemic, progressive hereditary disease, characterized by cyst formation in multiple organs. Patients with ADPKD mostly develop end stage renal disease (ESRD) and require renal replacement therapy, preferably renal transplantation (RT). In this study, we aimed to compare the post-RT complications, patient and graft survivals in patients with ADPKD and other etiologies of ESRD.Materials and Methods: We retrospectively evaluated patients’ baseline characteristics, post-RT complications, patient and graft survival in patients with ESRD underwent renal transplantation due to ADPKD and other etiologies. We included 28 patients in ADPKD and 28 patients in the control group.Results: The mean survival time was 224.83 ± 7.53 months in all patients. During follow-up period 1 patient died in both groups and 10 years patients and graft survivals were similar for both groups. The graft survival, acute and chronic rejections and glomerular filtration rate levels were similar in both groups end of the first year of RT but total cholesterol and glucose levels were significantly higher in the ADPKD group. Moreover, developing of ischemic heart disease was significantly higher in ADPKD (32% vs 0%, p=0.002), the other complication rates were similar in both.Conclusion: As a comparesion to patients with ESRD underwent RT due to ADPKD and different etiologies, both groups have similar patient and graft survival rates. Patients with ADPKD after transplantation may have a higher incidence of ischemic heart disease.

Corneal endothelial cell density and microvascular changes of retina and optic disc in autosomal dominant polycystic kidney disease.

Purpose:Vascular endothelial dysfunction in autosomal dominant polycystic kidney disease (ADPKD) may affect the retinal vascular parameters due to structural similarities of kidney and retina. We aimed to evaluate the microvascular changes of retina and optic disc and also corneal endothelial cell density in patients with ADPKD.Methods:Forty-six eyes of 23 patients with ADPKD (Group 1), and 46 eyes of 23 sex- and age-matched healthy controls (Group 2) were included in this cross-sectional study. Demographic and ophthalmic findings of participants were collected. Corneal endothelial cell density (CECD) measurements were obtained by noncontact specular microscopy. Foveal retinal thickness, peripapillary retinal nerve fiber layer (RNFL) thickness, vessel density in different sections of the retina and optic nerve head were analyzed by optical coherence tomography angiography.Results:The mean ages were 41 ± 11 years for Group 1 and 39 ± 10 years for Group 2 (P = 0.313). CECD values were significantly lower in group 1 when compared to group 2 (2653 ± 306 cells/mm2 and 2864 ± 244 cells/mm2, respectively, P < 0.001). The foveal retinal thickness and RNFL thickness were similar, but superior quadrant thickness of RNFL was significantly lower in Group 1 than Group 2 (126 ± 14 μm vs. 135 ± 15 μm, P = 0.003). In Group 1, whole image of optic disc radial peripapillary capillary densities were significantly lower compared to Group 2 (49.4 ± 2.04%, and 50.0 ± 2.2%, respectively, P = 0.043). There was no significant difference regarding superficial, deep retinal vessel densities, foveal avascular zone and flow areas between the groups (P > 0.05 for all).Conclusion:Lower CECD values and decreased superior quadrant RNFL thickness, and microvascular densities of optic disc were revealed in patients with ADPKD. Evaluation of CECD and retinal microvasculature may be helpful in the management of these patients.

Colonic diverticular disease in autosomal dominant polycystic kidney disease: is there really an association? A nationwide analysis.

Colonic diverticulosis, diverticulitis, and diverticular bleeding are reportedly more common in patients with autosomal dominant polycystic kidney disease (ADPKD). Other studies have questioned this association. The objectives of our study are to clarify this association using a larger patient population and to identify risk factors in general to develop diverticular disease. The Nationwide Inpatient Sample weighted discharges from 2003 to 2011 were used to assess for the prevalence of diverticular disease in the population with ADPKD compared with the general population without ADPKD. A multivariable direct logistic regression model was constructed to determine independent predictors of diverticular disease in the general population. The prevalence of diverticulosis, diverticulitis, and diverticular bleeding were considerably increased in patients with ADPKD compared with the general population without ADPKD. The prevalence of colonic surgery was less in ADPKD patients with diverticulitis. In patients with kidney transplant, the prevalence of diverticulitis was increased in the ADPKD group, but colonic surgery was not significantly different between both groups. The prevalence of diverticular bleeding was slightly elevated in patients with ADPKD, but colonic surgery was significantly increased in patients with ADPKD. NSAID use, hypertension, constipation, and ADPKD had increased odds ratios for diverticular disease during multivariate analysis. There is an increased prevalence of colonic diverticular disease in the population with ADPKD.

Lack of impact of polycystic kidney disease on the outcome of aneurysmal subarachnoid hemorrhage: a matched case-control study.

The authors set out to study whether autosomal dominant polycystic kidney disease (ADPKD), an established risk factor for intracranial aneurysms (IAs), affects the acute course and long-term outcome of aneurysmal subarachnoid hemorrhage (aSAH). The outcomes of 32 ADPKD patients with aSAH between 1980 and 2015 (median age 43 years; 50% women) were compared with 160 matched (age, sex, and year of aSAH) non-ADPKD aSAH patients in the prospectively collected Kuopio Intracranial Aneurysm Patient and Family Database. At 12 months, 75% of the aSAH patients with ADPKD versus 71% of the matched-control aSAH patients without ADPKD had good outcomes (Glasgow Outcome Scale score 4 or 5). There was no significant difference in condition at admission. Hypertension had been diagnosed before aSAH in 69% of the ADPKD patients versus 27% of controls (p < 0.001). Multiple IAs were present in 44% of patients in the ADPKD group versus 25% in the control group (p = 0.03). The most common sites of ruptured IAs were the anterior communicating artery (47% vs 29%, p = 0.05) and the middle cerebral artery bifurcation (28% vs 31%), and the median size was 6.0 mm versus 8.0 mm (p = 0.02). During the median follow-up of 11 years, a second aSAH occurred in 3 of 29 (10%) ADPKD patients and in 4 of 131 (3%) controls (p = 0.11). A fatal second aSAH due to a confirmed de novo aneurysm occurred in 2 (6%) of the ADPKD patients but in none of the controls (p = 0.027). The outcomes of ADPKD patients with aSAH did not differ significantly from those of matched non-ADPKD aSAH patients. ADPKD patients had an increased risk of second aSAH from a de novo aneurysm, warranting long-term angiographic follow-up.

Application of immunosuppressants in patients with autosomal dominant polycystic kidney disease after kidney transplantation

To investigate the optimal dose range of immunosuppressants in patients with autosomal dominant polycystic kidney disease (ADPKD) after renal transplantation. A cohort of 68 patients with ADPKD who received their first renal transplantation between March, 2000 and January, 2018 in our institute were retrospectively analyzed, with 68 non-ADPKD renal transplant recipients matched for gender, age and date of transplant as the control group. We analyzed the differences in patient and renal survival rates, postoperative complications and concentrations of immunosuppressive agents between the two groups at different time points within 1 year after kidney transplantation. The concentrations of the immunosuppressants were also compared between the ADPKD patients with urinary tract infections (UTI) and those without UTI after the transplantation. The recipients with ADPKD and the control recipients showed no significantly difference in the overall 1-, 5-, and 10- year patient survival rates (96.6% vs 96.0%, 94.1% vs 93.9%, and 90.6% vs 93.9%, respectively; P &gt; 0.05), 1-, 5-, and 10-year graft survival rates (95.2% vs 96.0%, 90.8% vs 87.2%, and 79.0% vs 82.3%, respectively; P &gt; 0.05), or the incidences of other post- transplant complications including acute rejection, gastrointestinal symptoms, cardiovascular events, pneumonia, and neoplasms (P &gt; 0.05). The plasma concentrations of both tacrolimus and mycophenolate mofetil (MPA) in ADPKD group were significantly lower than those in the control group at 9 months after operation (P &lt; 0.05). The incidence of UTI was significantly higher in ADPKD patients than in the control group (P &lt; 0.05). In patients with ADPKD, those with UTI after transplantation had a significantly higher MPA plasma concentration (P &lt; 0.05). In patients with ADPKD after renal transplant, a higher dose of MPA is associated with a increased risk of UTI, and their plasma concentrations of immunosuppressants for long-term maintenance of immunosuppression regimen can be lower than those in other kidney transplantation recipients.

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

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, CanadaPatients: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.

Evolution of metabolic syndrome components in patients with autosomal-dominant polycystic kidney disease: a six-year follow-up study

Aim: Long-term studies show that some metabolic syndrome (MS) components deteriorate renal function in autosomal dominant polycystic kidney disease (ADPKD) patients. The aim of this 6-year follow-up was to analyze early changes of all MS components and their associations with kidney function in the nondiabetic ADPKD patients with normal renal function, compared to controls. Material/Methods: The follow-up physical and laboratory examinations were performed for 39 ADPKD patients (age 43.7 ± 11.4 years) and 44 controls (43.5 ± 9.1 years). Results: We noticed a significant increase in weight, body mass index (BMI), waist, total and LDL cholesterol, C-peptide, uric acid, creatinine and significant decline of HbA1c and e-GFR in the ADPKD group. Increases in waist, uric acid and creatinine concentrations were significantly higher in the ADPKD patients than controls. Both groups showed similar rates of prediabetes, while diabetes developed in 5 controls (with 4 cases of type 2 diabetes and one case of type 1), but not in the ADPKD group (11% vs 0%, P = 0.06 for diabetes, 9% vs 0%, P = 0.12 for type 2 diabetes). The ADPKD group showed a significantly higher percentage of obesity, waist circumferences, systolic/diastolic blood pressure, concentrations of creatinine, urea and uric acid and lower e-GFR. The MS prevalence was comparable; however, the number of MS components was significantly higher in the ADPKD patients (median 2 vs. 1, p = 0.001). Conclusions: The presence of MS does not influence the rate of renal failure progression in nondiabetic ADPKD patients with normal renal function at a 6-year follow-up.

Alterations of Proximal Tubular Secretion in Autosomal Dominant Polycystic Kidney Disease.

In autosomal dominant polycystic kidney disease (ADPKD), the GFR often remains normal despite significant nephron loss. Proximal tubular secretory clearance may be reduced in ADPKD before detectable changes in GFR. We used targeted mass spectrometry to quantify secretory solutes from blood and urine samples from 31 patients with ADPKD and preserved GFR (mean eGFR =111±11 ml/min per 1.73 m2) and 25 healthy control individuals as well as from 95 patients with ADPKD and reduced GFR (mean eGFR =53±21 ml/min per 1.73 m2) and 92 individuals with non-ADPKD CKD. We used linear regression to compare the fractional excretion of each solute between ADPKD and control groups. Among 112 patients with ADPKD, we used linear regression to determine associations of solute fractional excretion with height-adjusted total kidney volume. After adjusting for demographics, clinical characteristics, and kidney function measures, the fractional excretions of three secretory solutes were lower in patients with ADPKD and preserved GFR compared with healthy individuals: 52% lower cinnamoylglycine excretion (95% confidence interval, 24% to 70%), 53% lower tiglylglycine excretion (95% confidence interval, 23% to 71%), and 91% lower xanthosine excretion (95% confidence interval, 83% to 95%). In addition to lower excretions of tiglylglycine and xanthosine, patients with ADPKD and reduced GFR also demonstrated 37% lower dimethyluric acid excretion (95% confidence interval, 21% to 50%), 58% lower hippurate excretion (95% confidence interval, 48% to 66%), 48% lower isovalerylglycine excretion (95% confidence interval, 37% to 56%), and 31% lower pyridoxic acid excretion (95% confidence interval, 16% to 42%) compared with patients with non-ADPKD CKD and comparable eGFR. Among patients with ADPKD, solute fractional excretions were not associated with differences in kidney volume. Patients with ADPKD and preserved and reduced GFR demonstrate lower tubular secretory solute excretion compared with healthy controls and patients with non-ADPKD CKD. Our results suggest that tubular secretion is impaired in ADPKD independent of GFR.

Aneurysm morphology in patients with autosomal dominant polycystic kidney disease: A case-control study

PurposeApproximately 8% of patients with autosomal dominant polycystic kidney disease (ADPKD) develop intracranial aneurysms. The reason for development of intracranial aneurysms in ADPKD patients might be related to interactions between the presence of hypertension and the basic mechanism underlying the disease, which leads to weakness of the connective tissue. In this study, we aimed to identify differences in aneurysm morphology between ADPKD patients and a location-matched set of controls. MethodsA total of 42 ADPKD patients and 49 control patients with 122 aneurysms were included. Aneurysm size, location, and morphology were evaluated by two neuroradiologists. Aneurysm morphology was classified into one of three groups: regular saccular, irregular saccular, and fusiform. Continuous variables were compared with chi-squared tests and categorical variables were compared with student’s t-test. ResultsWhen considering all patients, there was no significant difference in aneurysm morphology or size (4.5 ± 2.6 mm vs 5.4 ± 2.9 mm; p = 0.09) between the ADPKD and control group. In a subgroup analysis of medium and large aneurysms (n = 61), there was a significantly lower incidence of regular saccular aneurysms (28% vs. 56%; p = 0.03) and higher incidence of fusiform aneurysms (12% vs 0%; p = 0.03) in the ADPKD group compared to a control group. ConclusionWhen excluding categorically “small” aneurysms, there is a reduced incidence of regular saccular aneurysms and increased incidence of fusiform aneurysms in ADPKD patients compared to a control group. Further study of this population of patients is warranted to better understand their risks of aneurysm rupture and indications for treatment.

EPICARDIAL FAT THICKNESS IN PATIENTS WITH AUTOSOMAL DOMINANT POLYCISTIC KIDNEY DISEASE

Objective: Autosomal dominant polycystic kidney disease (ADPKD) is associated with early organ damage such as left ventricular hypertrophy (LVH) and higher cardiovascular risk when compared to essential hypertension (EH). Epicardial adipose tissue (EAT) is a new cardiovascular risk factor, but its correlation with LVH in ADPKD is unknown. We sought to evaluate the correlation of ultrasound measured EAT and LVH in a well-studied group of hypertensive patients with ADPKD in comparison with essential hypertension (EH) subjects. Design and method: We performed ultrasound measurement of the EAT and other echocardiographic parameters, such as left ventricular mass (LVM), left ventricular mass indexed by body surface area (LVMi), and left atrium size in 41 consecutive hypertensive patients with ADPKD, compared to 89 EH patients. Results: EAT was significantly higher in ADPKD group respect to EH subjects (9.2 ± 2.9 mm vs 7.8 ± 1.6 mm, p < 0.001), and significantly correlated with LVM, LVMi and left atrium size in the ADPKD group (r = 0.56, p = 0.005; r = 0.424, p = 0.022; and r = 0.48, p = < 0.001, respectively). Comparing EAT against body mass index (BMI), waist circumference (WC), systolic blood pressure (SBP), diastolic blood pressure (DBP) and age, we found that EAT is the strongest predictor of LVMi (B = 0.59, p = 0.036). Conclusions: Our data shows that EAT is higher in ADPKD patients than in EH subjects and independently correlates with LVMi. EAT measurement can be as useful marker in the cardiovascular risk stratification in ADPKD.