Reassuring pregnancy outcomes in women with mild COL4A3-5-related disease (Alport syndrome) and genetic type of disease can aid personalized counseling.

Individualized pre-pregnancy counseling and antenatal care for women with chronic kidney disease (CKD) require disease-specific data. Here, we investigated pregnancy outcomes and long-term kidney function in women with COL4A3-5 related disease (Alport Syndrome, (AS)) in a large multicenter cohort. The ALPART-network (mAternaL and fetal PregnAncy outcomes of women with AlpoRT syndrome), an international collaboration of 17 centers, retrospectively investigated COL4A3-5 related disease pregnancies after the 20th week. Outcomes were stratified per inheritance pattern (X-Linked AS (XLAS)), Autosomal Dominant AS (ADAS), or Autosomal Recessive AS (ARAS)). The influence of pregnancy on estimated glomerular filtration rate (eGFR)-slope was assessed in 192 pregnancies encompassing 116 women (121 with XLAS, 47 with ADAS, and 12 with ARAS). Median eGFR pre-pregnancy was over 90ml/min/1.73m2. Neonatal outcomes were favorable: 100% live births, median gestational age 39.0 weeks and mean birth weight 3135 grams. Gestational hypertension occurred during 23% of pregnancies (reference: 'general' CKD G1-G2 pregnancies incidence is 4-20%) and preeclampsia in 20%. The mean eGFR declined after pregnancy but remained within normal range (over 90ml/min/1.73m2). Pregnancy did not significantly affect eGFR-slope (pre-pregnancy ß=-1.030, post-pregnancy ß=-1.349). ARAS-pregnancies demonstrated less favorable outcomes (early preterm birth incidence 3/11 (27%)). ARAS was a significant independent predictor for lower birth weight and shorter duration of pregnancy, next to the classic predictors (pre-pregnancy kidney function, proteinuria, and chronic hypertension) though missing proteinuria values and the small ARAS-sample hindered analysis. This is the largest study to date on AS and pregnancy with reassuring results for mild AS, though inheritance patterns could be considered in counseling next to classic risk factors. Thus, our findings support personalized reproductive care and highlight the importance of investigating kidney disease-specific pregnancy outcomes.

The Importance of Early Diagnosis and Intervention in Chronic Kidney Disease: Calls-to-Action from Nephrologists Based Mainly in Central/Eastern Europe.

BACKGROUND: Chronic kidney disease (CKD) has a global prevalence of 9.1-13.4%. Comorbidities are abundant and may cause and affect CKD. Cardiovascular disease strongly correlates with CKD, increasing the burden of both diseases. SUMMARY: As a group of 15 clinical nephrologists primarily practicing in 12 Central/Eastern European countries, as well as Israel and Kazakhstan, herein we review the significant unmet needs for patients with CKD and recommend several key calls-to-action. Early diagnosis and treatment are imperative to ensure optimal outcomes for patients with CKD, with the potential to greatly reduce both morbidity and mortality. Lack of awareness of CKD, substandard indicators of kidney function, suboptimal screening rates, and geographical disparities in reimbursement often hamper access to effective care. KEY MESSAGES: Our key calls-to-action to address these unmet needs, thus improving the standard of care for patients with CKD, are the following: increase disease awareness, such as through education; encourage provision of financial support for patients; develop screening algorithms; revisit primary care physician referral practices; and create epidemiological databases that rectify the paucity of data on early-stage disease. By focusing attention on early detection, diagnosis, and treatment of high-risk and early-stage CKD populations, we aim to reduce the burdens, progression, and mortality of CKD.

Endobiogenic Biology of Function Indices in a Cohort of Kidney Transplant Recipients.

Background and Objectives: Endobiogeny is a global systems approach to human biology based on the concept that the endocrine system manages the metabolism. Biology of function (BoF) indices are diagnostic tools in endobiogenic medicine that reflect the action of the endocrine system on the cells and the metabolic activity of an organism. Kidney transplant recipients are a very specific patient population due to their constant use of immunosuppressive agents such as steroids and anamnesis of chronic kidney disease. The aim of this study was to assess the tendencies of endobiogenic BoF indices in a kidney transplant recipient population and to determine the relationship between BoF index values and histology-proven kidney transplant rejection. Materials and Methods: A total of 117 kidney transplant recipients undergoing surveillance or indication allograft biopsy were included in this study. Endobiogenic BoF indices were calculated from complete blood count tests taken before the kidney biopsy. Histology samples were evaluated by an experienced pathologist according to the Banff classification system. Clinical and follow-up data were collected from an electronic patient medical record system. Results: Overall, <35% of the patients had BoF index values assumed to be normal, according to the general population data. Additionally, >50% of the patients had lower-than-normal adaptation, leucocyte mobilization, genital, and adjusted genital ratio indices, while the Cata-Ana, genito-thyroid ratio, adrenal gland, and cortisol indices were increased in >50% of the transplant recipients. The adaptation index was significantly higher in patients with biopsy-proven transplant rejection and demonstrated an AUC value of 0.649 (95%CI 0.540-0.759) for discriminating rejectors from patients without transplant rejection. Conclusions: Most of the kidney transplant recipients had abnormal BoF index values, reflecting increased corticotropic effects on their cells. The adaptation index distinguished patients with biopsy-proven transplant rejection from those without it.

Influence of Aortic Arch Morphology on Renal Perfusion in Patients with Coarctation of the Aorta: An Exploratory Study.

Objectives: The configuration of the aortic arch, particularly a Gothic arch shape, in individuals with corrected coarctation of the aorta (CoA) has been associated with a decreased systolic wave amplitude across the arch, which could potentially impair renal perfusion and elevate the risk of arterial hypertension. This study aims to explore the relationship between the morphological characteristics of the aortic arch and their impact on renal perfusion in patients with CoA. Methods: Seventy-one subjects with corrected CoA underwent continuous 24 h ambulatory blood pressure monitoring, computed tomography to assess the aortic arch, and renal perfusion scanning. Subjects were stratified into three groups based on the height-to-width (H/W) ratio of their aortic arch: Group 1 with a H/W ratio of <0.65, Group 2 with a H/W ratio between 0.65 and 0.85, and Group 3 with a H/W ratio of >0.85. Results: Groups 1 and 2 (53,78% and 62.63%) presented with a higher hypertension prevalence of elevated blood pressure than Group 3 (38.89%). Notable variations were observed among the subjects in the time to peak perfusion (Tmax) in the left kidney across the groups. Group 1 showed a median Tmax at 0.27, Group 2 at 0.13, and Group 3 at -0.38 (p-value = 0.079). The differences in Tmax for the right kidney followed a similar trend but were not statistically significant (Group 1 at 0.61, Group 2 at 0.22, and Group 3 at 0.11; p-value = 0.229). Conclusions: This study suggests that variations in the aortic arch morphology might not significantly influence renal perfusion in CoA patients. This indicates the potential adaptability of the renal blood flow, which appears to compensate for reduced perfusion, thus minimizing adverse effects on the kidney function. This adaptability suggests an inherent physiological resilience, emphasizing the need for further targeted research to understand the specific interactions and impacts on treatment strategies for CoA.

Characteristics of COVID-19 Disease in Renal Transplant Recipients.

Background and Objectives: Kidney transplant recipients are at risk of developing more severe forms of COVID-19 infection. The aim of this study was to compare the clinical course of COVID-19 infection among kidney transplant patients and a control group. Materials and Methods: We examined 150 patients hospitalized with COVID-19 infection. Patients were divided into study (kidney transplant recipients, n = 53) and control (without a history of kidney transplantation, n = 97) groups. Demographics, clinical characteristics, treatment data, and clinical outcomes were assessed. Results: The median patient age was 56.0 (46.0-64.0) years, and seventy-seven patients (51.3%) were men. The median Charlson comorbidity index was higher in the study group (3.0 vs. 2.0, p < 0.001). There was a higher incidence of hypoxemia in the control group upon arrival (52.6% vs. 22.6%, p = 0.001) and a higher NEWS index median (2.0 vs. 1.0 points, p = 0.009) and incidence of pneumonia during hospitalization (88.7% vs. 73.6%, p = 0.023). In the study group, there were more cases of mild (26.4% vs. 11.3%, p = 0.023) and critically severe forms of COVID-19 infection (26.4% vs. 3.1%, p < 0.001), kidney failure was more prevalent (34.0% vs. 1.0%, p < 0.001), and a greater number of patients were transferred to the intensive care unit (22.6% vs. 3.1%, p < 0.001) and died (18.9% vs. 1.0%, p < 0.001). Multivariable analysis revealed that treatment in the intensive care unit correlated with a higher mortality rate than transplantation itself (HR = 20.71, 95% CI 2.01-213.33, p = 0.011). Conclusions: The course of the COVID-19 disease in kidney transplant recipients is heterogeneous and can be more severe than in the general population. Even though patients may be hospitalized with fewer symptoms, complications and death are more likely to occur.

The academic impact and value of an international online surgery lecture series.

Due to the worldwide travel restrictions caused by the 2019 coronavirus disease pandemic, many universities and students lost opportunities to engage in international exchange over the past 2 years. Teleconferencing systems have thus been developed to compensate for severe travel restrictions. Kansai Medical University in Japan and Vilnius University in Lithuania have a collaborative research and academic relationship. The two universities have been conducting an online joint international surgery lecture series for the medical students of both universities. Fifteen lectures were given from October 2021 to May 2022. The lectures focused on gastrointestinal surgery, gastroenterology, radiology, pathology, genetics, laboratory medicine, and organ transplantation. A survey of the attendees indicated that they were generally interested in the content and satisfied with attending this lecture series. Our efforts were successful in providing Japanese and Lithuanian medical students with the opportunity to engage in international exchange through lectures held in each other's countries.

The Impact of Nutritional Status on Sexual Function in Male Kidney Transplant Recipients.

Background and Objectives: Sexual function and nutritional status assessment are relevant topics in chronic kidney disease patients. This study was designed to investigate whether bioelectrical impedance analysis-derived nutritional parameters, nutritional biomarkers, and handgrip strength influence sexual function and to analyze the changes in sexual function after kidney transplantation in men. Materials and Methods: Fifty-four men with kidney failure who had undergone replacement therapy entered the study. In addition, sexual function and nutritional status were evaluated before kidney transplantation and 12 months after. We used the International Index of Erectile Function, bioelectrical impedance analysis, three different malnutrition screening tools, handgrip strength, and anthropometric measurements. The demographic profiles and biochemical nutritional markers were collected. Results: Sexual inactivity was associated with a lower phase angle (6 (1) vs. 7 (1), p < 0.05) and a higher fat mass index (7 (5) vs. 3 (4), p < 0.05). Normal erectile function before kidney transplantation was significantly related to higher fat-free mass (67 (11) vs. 74 (7), p < 0.05) and lean mass (64 (10) vs. 70 (7), p < 0.05). The improvement in erectile function after kidney transplantation was nonsignificant (44% vs. 33%, p = 0.57). Only a weak association between muscle mass and sexual desire 12 months after kidney transplantation was found (rS = 0.36, p = 0.02). Further, linear regression revealed that higher muscle mass could predict better sexual desire after kidney transplantation following adjustment for age, estimated glomerular filtration rate, and diabetes mellitus. Conclusions: Kidney transplantation did not significantly improve erectile dysfunction in our study population. Sexual desire and intercourse satisfaction are the most affected domains in patients with chronic kidney disease. Higher muscle mass predicts higher sexual desire after kidney transplantation. Higher levels of fat-free and lean mass are associated with normal erectile function before kidney transplantation.

The Association between COVID-19 Infection and Kidney Damage in a Regional University Hospital.

Background and Objectives: Kidneys are one of the main targets for SARS-CoV-2. Early recognition and precautionary management are essential in COVID-19 patients due to the multiple origins of acute kidney injury and the complexity of chronic kidney disease management. The aims of this research were to investigate the association between COVID-19 infection and renal injury in a regional hospital. Materials and Methods: The data of 601 patients from the Vilnius regional university hospital between 1 January 2020 and 31 March 2021 were collected for this cross-sectional study. Demographic data (gender, age), clinical outcomes (discharge, transfer to another hospital, death), length of stay, diagnoses (chronic kidney disease, acute kidney injury), and laboratory test data (creatinine, urea, C-reactive protein, potassium concentrations) were collected and analyzed statistically. Results: Patients discharged from the hospital were younger (63.18 ± 16.02) than those from the emergency room (75.35 ± 12.41, p < 0.001), transferred to another hospital (72.89 ± 12.06, p = 0.002), or who died (70.87 ± 12.83, p < 0.001). Subsequently, patients who died had lower creatinine levels on the first day than those who survived (185.00 vs. 311.17 µmol/L, p < 0.001), and their hospital stay was longer (Spearman's correlation coefficient = -0.304, p < 0.001). Patients with chronic kidney disease had higher first-day creatinine concentration than patients with acute kidney injury (365.72 ± 311.93 vs. 137.58 ± 93.75, p < 0.001). Patients with acute kidney injury and chronic kidney disease complicated by acute kidney injury died 7.81 and 3.66 times (p < 0.001) more often than patients with chronic kidney disease alone. The mortality rate among patients with acute kidney injury was 7.79 (p < 0.001) times higher than among patients without these diseases. Conclusions: COVID-19 patients who developed acute kidney injury and whose chronic kidney disease was complicated by acute kidney injury had a longer hospital stay and were more likely to die.

A Prospective Study on the Impact of Clinical Factors and Adjusted Triple D System for Success Rate of ESWL.

Objective: Our study aimed to evaluate the success rate of ESWL and identify relevant treatment-specific factors affecting treatment outcomes, as well as to assess the accuracy of the updated Triple D scoring system and compare it with older systems. Material and Methods: A prospective study of 71 patients who received ESWL treatment for renal stones that were 5-15 mm in size was completed. The patient having no residual stones or residual stones lesser than 4 mm after ESWL was identified as a treatment success. Univariate and multivariate logistic regression and ROC curves were used to identify important factors for treatment outcomes. Results: Successful treatment was achieved for 66.2% of patients. The stone volume (SV), mean stone density (MD), and delivered power to the stone volume unit ratio (SMLI/SV) were defined as the most critical factors influencing ESWL success. An updated Triple D score system with a, SMLI/SV ratio could be an alternative to older systems and reach an even higher accuracy. A limitation of this study is the limited sample size due to the COVID-19 pandemic. Conclusions: Our results show that the three factors that most influence the success of ESWL are the stone size, mean stone density, and SMLI/SV ratio. Based on this, we present a simple updated triple D score system to predict ESWL success, which could be implemented in future clinical practice.

Atherosclerotic Renovascular Disease: A KDIGO (Kidney Disease: Improving Global Outcomes) Controversies Conference.

The diagnosis and management of atherosclerotic renovascular disease (ARVD) is complex and controversial. Despite evidence from the ASTRAL (2009) and CORAL (2013) randomized controlled trials showing that percutaneous renal artery revascularization did not improve major outcomes compared with best medical therapy alone over 3-5 years, several areas of uncertainty remain. Medical therapy, including statin and antihypertensive medications, has evolved in recent years, and the use of renin-angiotensin-aldosterone system blockers is now considered the primary means to treat hypertension in the setting of ARVD. However, the criteria to identify kidneys with renal artery stenosis that have potentially salvageable function are evolving. There are also data suggesting that certain high-risk populations with specific clinical manifestations may benefit from revascularization. Here, we provide an overview of the epidemiology, diagnosis, and treatment of ARVD based on consensus recommendations from a panel of physician experts who attended the recent KDIGO (Kidney Disease: Improving Global Outcomes) Controversies Conference on central and peripheral arterial diseases in chronic kidney disease. Most focus is provided for contentious issues, and we also outline aspects of investigation and management of ARVD that require further research.

Kinetics of SuPAR hemoadsorption in critical COVID-19 patients on renal replacement therapy.

BACKGROUND: SARS-CoV-2 viral infection is associated with a rapid and vigorous systemic inflammatory response syndrome. Soluble urokinase-type plasminogen activator receptor (suPAR) is a novel biomarker, both indicative of inflammation and propagating it. Hemoadsorption has been proposed as a potential therapy in COVID-19 patients, therefore the aim of this study is to determine suPAR kinetics during hemoadsoprtion. METHODS: This was a prospective observational study of critical COVID-19 patients, enrolled when hemoperfusion therapy was initiated. Hemoadsorber was integrated into the continuous renal replacement therapy circuit. The first series of suPAR measurements was performed 10 minutes after the start of the session, sampling both incoming and outgoing lines of the adsorber. A second series of the measurements was performed beforefinishing the session with the same adsorber. Statistical significance level was set < 0.05. RESULTS: This study included 18 patients. In the beginning of the session the fraction of suPAR cleared across the adsorber was 29.5% [16-41], and in the end of the session it decreased to 7.2% [4-22], 4 times lower, p = 0.003. The median length of session was 21 hours, with minimal duration of 16 hours and maximal duration of 24 hours. The median suPAR before the procedure was 8.71 [7.18-10.78] and after the session was 7.35 [6.53-11.28] ng/ml. There was no statistically significant difference in suPAR concentrations before and after the session (p = 0.831). CONCLUSIONS: This study concluded that in the beginning of the hemoadsorption procedure significant amount of suPAR is removed from the circulation. However, in the end of the procedure there is a substantial drop in adsorbed capacity. Furthermore, despite a substantial amount of suPAR cleared there is no significant difference in systemic suPAR concentrations before and after the hemoadsorption procedure.

May Measurement Month 2017-2019: an analysis of blood pressure screening results from Lithuania.

In 2017, Lithuania joined the global May Measurement Month (MMM) campaign which aims at raising awareness of raised blood pressure worldwide. Presented here are the data arising from the 2017, 2018, and 2019 campaigns. An opportunistic cross-sectional survey of individuals aged ≥18 years was carried out in Lithuania in 2017, 2018, and 2019. Two thousand nine hundred and nineteen participants were recruited in the MMM campaigns in response to the media engagement and interactions with the study team. The mean age of participants was 46.1 years (SD 16.3) years, 58.9% were females. Blood pressures were measured using electronic devices provided by Omron according to the MMM protocol. Of the 2919 screened participants, 1308 (44.8%) had hypertension. Of all hypertensive participants, the awareness rate, the treatment rate, and the control rates (<140/90 mmHg) were 79.5%, 41.0%, and 14.2%, respectively. Of those on antihypertensive medication, the control rate was 34.8%. The high percentage of participants with hypertension was either untreated (59.0%) or treated but uncontrolled (65.2%) suggests the usefulness of such screening programmes to improve awareness of hypertension control in Lithuania.

Evaluation of Renal Function after Partial Nephrectomy and Detection of Clinically Significant Acute Kidney Injury.

Background and Objectives: Consequences of partial nephrectomy (PN), intraoperative hypotension (IOH) and postoperative neutrophil to lymphocyte ratio (NLR) may cause postoperative acute kidney injury (AKI) and in long-term-chronic kidney disease (CKD). Our study aimed to identify the AKI incidence after PN, to find clinically significant postoperative AKI and renal dysfunction, and to determine the predictor factors. Materials and Methods: A prospective observational study consisted of 91 patients who received PN with warm ischemia, and estimated preoperative glomerular filtration rate (eGFR) ≥ 60 mL/min and without abnormal albuminuria. Results: 38 (41.8%) patients experienced postoperative AKI. Twenty-one (24.1%) patients had CKD upstage after 1 year follow-up. Sixty-seven percent of CKD upstage patients had AKI 48 h after surgery and 11% after 2 months. All 15 (16.5%) patients with CKD had postoperative AKI. With IOH, OR 1.07, 95% CI 1.03−1.10 and p < 0.001, postoperative NLR after 48 h (OR 1.50, 95% CI 1.19−1.88, p < 0.001) was the major risk factor of AKI. In multivariate logistic regression analysis, the kidney's resected part volume (OR 1.08, 95% CI 1.03−1.14, p < 0.001) and IOH (OR 1.10, 95% CI 1.04−1.15, p < 0.001) were retained as statistically significant prognostic factors for detecting postoperative renal dysfunction. The independent risk factor for clinically significant postoperative AKI was only IOH (OR, 1.06; p < 0.001). Only AKI with the CKD upstage group has a statistically significant effect (p < 0.0001) on eGFR 6 and 12 months after surgery. Conclusions: The presence of AKI after PN is not rare. IOH and NLR are associated with postoperative AKI. The most important predictive factor of postoperative AKI is an NLR of over 3.5. IOH is an independent risk factor for clinically significant postoperative AKI and together with kidney resected part volume effects postoperative renal dysfunction. Only clinically significant postoperative AKI influences the reduction of postoperative eGFR after 6 and 12 months.

Kidney transplantation from a SARS-CoV-2-positive donor for the recipients with immunity after COVID-19.

The coronavirus (COVID-19) pandemic is evolving very quickly and has affected healthcare systems worldwide. Many uncertainties remain about transplantation from a SARS-CoV-2-positive donor as only a few cases have been reported. Here, we present the successful transplantation of 2 kidneys from a 52-year-old male donor with active (2 weeks of COVID-19-like symptoms and positive nasopharyngeal swab SARS-CoV-2 polymerase chain reaction on the day of organ recovery) SARS-CoV-2 disease. The immediate postoperative course of both recipients was uneventful. This case emphasizes that patients with SARS-CoV-2 may be safe organ donors.

Early Post-Transplant Leptin Concentration Changes in Kidney Transplant Recipients.

Background and Objectives: Kidney transplant recipients represent a unique population with metabolic abnormalities, altered nutritional and immune status, as well as an imbalanced regulation of adipocytokine metabolism. Leptin is a hormonally active protein mainly produced by fat tissue that modulates appetite, satiety, and influences growth, energy, and bone metabolism. There has been great interest in the role of this hormone in chronic kidney disease-related protein energy wasting; thus, a positive leptin correlation with body mass index and fat mass was confirmed. This study was designed to determine the association of pre and post-kidney transplant leptin concentration with nutritional status and body composition. Materials and Methods: We studied 65 kidney transplant recipients. Nutritional status was evaluated before kidney transplantation and 6 months later using three different malnutrition screening tools (Subjective Global Assessment Scale (SGA), Malnutrition Inflammation Score (MIS), and Geriatric Nutritional Risk Index (GNRI)), anthropometric measurements, and body composition (bioelectrical impedance analysis (BIA)). Demographic profile, serum leptin levels, and other biochemical nutritional markers were collected. Statistical analysis was performed with R software. Results: Median age of the studied patients was 45 years, 42% were females, and 12% had diabetes. Leptin change was associated with body weight (p < 0.001), waist circumference (p < 0.001), fat mass (p < 0.001) and body fat percentage (p < 0.001), decrease in parathyroid hormone (PTH) (p < 0.001) transferrin (p < 0.001), diabetes mellitus (p = 0.010), and residual renal function (p = 0.039), but not dependent on dialysis vintage, estimated glomerular filtration rate (eGFR), or delayed graft function at any time during the study. After adjustment for age and sex, body mass index (BMI) (p < 0.001), fat mass (p < 0.001), and body fat percentage (p < 0.001) were independent variables significantly associated with post-transplant leptin change. Lower leptin values were found both before and after kidney transplantation in the SGA B group. GNRI as a nutritional status tool was strongly positively related to changes in leptin within the 6-month follow-up period. Conclusions: Kidney transplant recipients experience change in leptin concentration mainly due to an increase in fat mass and loss of muscle mass. GNRI score as compared to SGA or MIS score identifies patients in whom leptin concentration is increasing alongside an accumulation of fat and decreasing muscle mass. Leptin concentration evaluation in combination with BIA, handgrip strength measurement, and GNRI assessment are tools of importance in defining nutrition status in the early post-kidney transplant period.

Pediatric transplantation in Europe during the COVID-19 pandemic: Early impact on activity and healthcare.

The current pandemic SARS-CoV-2 has required an unusual allocation of resources that can negatively impact chronically ill patients and high-complexity procedures. Across the European Reference Network on Pediatric Transplantation (ERN TransplantChild), we conducted a survey to investigate the impact of the COVID-19 outbreak on pediatric transplant activity and healthcare practices in both solid organ transplantation (SOT) and hematopoietic stem cell transplantation (HSCT). The replies of 30 professionals from 18 centers in Europe were collected. Twelve of 18 centers (67%) showed a reduction in their usual transplant activity. Additionally, outpatient visits have been modified and restricted to selected ones, and the use of telemedicine tools has increased. Additionally, a total of 14 COVID-19 pediatric transplanted patients were identified at the time of the survey, including eight transplant recipients and six candidates for transplantation. Only two moderate-severe cases were reported, both in HSCT setting. These survey results demonstrate the limitations in healthcare resources for pediatric transplantation patients during early stages of this pandemic. COVID-19 disease is a major worldwide challenge for the field of pediatric transplantation, where there will be a need for systematic data collection, encouraging regular discussions to address the long-term consequences for pediatric transplantation candidates, recipients, and their families.

Treatment and long-term outcome in primary distal renal tubular acidosis.

BACKGROUND: Primary distal renal tubular acidosis (dRTA) is a rare disorder, and we aimed to gather data on treatment and long-term outcome. METHODS: We contacted paediatric and adult nephrologists through European professional organizations. Responding clinicians entered demographic, biochemical, genetic and clinical data in an online form. RESULTS: Adequate data were collected on 340 patients (29 countries, female 52%). Mutation testing had been performed on 206 patients (61%); pathogenic mutations were identified in 170 patients (83%). The median (range) presentation age was 0.5 (0-54) years and age at last follow-up was 11.0 (0-70.0) years. Adult height was slightly below average with a mean (SD score) of -0.57 (±1.16). There was an increased prevalence of chronic kidney disease (CKD) Stage ≥2 in children (35%) and adults (82%). Nephrocalcinosis was reported in 88%. Nephrolithiasis was more common with SLC4A1 mutations (42% versus 21%). Thirty-six percent had hearing loss, particularly in ATP6V1B1 (88%). The median (interquartile range) prescribed dose of alkali (mEq/kg/day) was 1.9 (1.2-3.3). Adequate metabolic control (normal plasma bicarbonate and normocalciuria) was achieved in 158 patients (51%), more commonly in countries with higher gross domestic product (67% versus 23%), and was associated with higher height and estimated glomerular filtration rate. CONCLUSION: Long-term follow-up from this large dRTA cohort shows an overall favourable outcome with normal adult height for most and no patient with CKD Stage 5. However, 82% of adult patients have CKD Stages 2-4. Importance of adequate metabolic control was highlighted by better growth and renal function but was achieved in only half of patients.

Should we calculate arterial stiffness gradient in middle-aged women with increased cardiovascular risk?

PURPOSE: The study was designed to evaluate clinical and laboratory determinants pulse wave velocity (PWV) ratio in women at the age of 50-65 years without overt cardiovascular disease but having elevated cardiovascular risk, such as hypertension, obesity, diabetes and hypercholesterolemia. MATERIALS AND METHODS: We analyzed data from 1170 women enrolled in the national-wide primary prevention program. Univariate and multivariate linear regression analysis was used to establish independent risk factors in groups based on clinical data, laboratory values, and comorbidities. Arterial stiffness was evaluated using applanation tonometry technique (SphygmoCor). The PWV ratio was calculated by dividing cfPWV to crPWV. RESULTS: In multivariate logistic regression analysis, age (OR = 1.109, p < .001), waist circumference (OR = 1.021, p = .001) and mean arterial pressure (OR = 1.031, p < .001) were found as independent clinical determinants of PWV ratio, while independent laboratory determinants were urine albumin to creatinine ratio (OR = 1.189, p = .010), triglycerides (OR = 1.161, p = .034), glucose (OR = 1.28, p = .001) and eGFR (OR = 0.998, p = .007). Diabetes (OR = 1.811, p = .029), hypertension (OR = 2.784, p = .042) and menopause (OR = 1.054, p = .018) were established as independent factors in comorbidities group. The analysis confirmed that PWV ratio (R2 = 0.0667, p < .001), as well as carotid radial (R2 = 0.0341, p < .001) and carotid femoral PWV (R2 = 0.1752, p < .001) is affected by mean arterial blood pressure. CONCLUSIONS: Age, abdominal obesity, blood pressure, triglycerides, glucose, kidney function parameters and menopause all are associated with PWV ratio. More importance to women with high cardiovascular risk should be given whilst screening and stratifying further progression of the disease.

Two years of maintenance hemodialysis has a pronounced effect on arterial stiffness progression.

BACKGROUND: The change of aortic stiffness, but not the particular baseline value, plays a crucial role in estimating the patient risk with end-stage renal disease. Therefore, we aimed to analyze the evolution of central and peripheral arterial stiffness in hemodialysis population without previous cardiovascular events during a 2-year follow-up. METHODS: 60 hemodialysis patients (mean age 57.61 ± 13.01 years) were prospectively interviewed, and they underwent blood tests, chest X-ray for aortic calcification evaluation and pulse wave velocity (PWV) measurements at the baseline, after 6 months and after 2 years of observation period. RESULTS: We found significant progression of aortic PWV (12.73 vs. 14.24 m/s, p = 0.032) and regression of brachial PWV (11.53 vs. 8.85 m/s, p < 0.001). CRP increase influenced evolution of aortic PWV (ß = 0.331, p = 0.031, R2 = 0.599). Higher ß2-microglobulin values was related to the progression of aortic PWV (ß = 0.219, p = 0.022, R2 = 0.568). Mean arterial blood pressure had influence only on the short-term arterial stiffness evolution. CONCLUSIONS: Patients on maintenance hemodialysis experience pronounced changes of arterial stiffness during the 2-year follow-up period. The progression of aortic stiffness is related to inflammatory response and particularly is influenced by ß2-microglobulin concentration and aortic calcification.

Genotype⁻Phenotype Correlation in a New Fabry-Disease-Causing Mutation.

Background: Fabry disease (FD) is a rare X-linked inherited lysosomal storage disorder caused by α-galactosidase A deficiency leading to intracellular glycosphingolipid accumulation. FD manifestation is multisystem, and can differ depending on disease-related genetic variants. Currently, more than 700 different FD-causing mutations have been identified in the human GLA gene. We identified a novel mutation in a Lithuanian family with classical manifestations of Fabry disease, revealing severe effects to the cardiovascular systems of heterozygous women. Case presentation: A 49-year-old woman underwent echocardiography due to progressive dyspnea that lasted seven years, reduced physical activity, and periodic cardiac arrhythmia. Echocardiography revealed left ventricular hypertrophy with normal diastolic function. The patient had experienced acroparesthesia in her upper limbs and abdominal pain since childhood, and in the last decade had experienced mild proteinuria without renal failure. Her renal biopsy was typical for Fabry disease. The patient's brain magnetic resonance imaging (MRI) (T2 flair) showed white matter hyperintensities lesions. DNA sequencing of the proband, her mother and one of her sons showed a novel GLA gene exon 2 mutation, c.270C>G (p.Cys90Trp). All three patients had decreased α-galactosidase A activity and specific FD manifestations. Conclusion: A novel GLA mutation, c.270C>G (p.Cys90Trp), was found in a Lithuanian family with a classical form of Fabry disease in heterozygous women with predominant cardiac involvement. However, the exact manifestation of this mutation is still unclear as it is newly reported and further research must be done.