Anderson-Fabryjeva bolest metabolička je bolest nakupljanja glikolipida u lizosomima. Multidisiciplinarni pristup neophodan je za rano prepoznavanje, liječenje i prevenciju komplikacija u oboljelih. Ove smjernice nadopuna su smjernica publiciranih u ime Referentnog centra za rijetke i metaboličke bolesti 2014. godine u Liječničkom vjesniku s obzirom na nove dijagnostičke postupke, biljege i terapijske opcije, suradnjom specijalista iz centara izvrsnosti te multidisciplinarnog tima Referentnog centra za rijetke i metaboličke bolesti odraslih Ministarstva zdravstva Republike Hrvatske. Smjernice su prezentirane na godišnjem sastanku Hrvatskog društva za rijetke bolesti Hrvatskoga liječničkog zbora te su jednoglasno prihvaćene.

In patients with Congestive Heart Failure (CHF), neurohormonal activation leads to fluid overload that can be treated with high doses of furosemide unless diuretic resistance and hyponatremia develop. End-stage CHF, including patients with normal or slightly deteriorated kidney function, can resist medical treatment. In some cases of refractory CHF, ultrafiltration (UF) is required. To manage a refractory CHF population, extracorporeal UF is commonly used as an emergency treatment, but peritoneal UF should be considered a follow-up therapy option. This method offers potential advantages over extracorporeal therapies, including better preservation of residual renal function, tighter control of sodium balance, less neurohumoral activation, and the possibility of daily treatment in the home environment. Using glucose as an osmotic agent leads to the deterioration of the peritoneal membrane. The UF properties of icodextrin depend on the dwell time, whereby the maximum effect of icodextrin concerning glucose is achieved at a prolonged dwell time. Icodextrin may offer improved peritoneal membrane biocompatibility compared with conventional glucose-based dialysates by decreasing glucose exposure, iso-osmolarity, and reduced carbonyl stress. The proper anesthesia technique and surgical approach for peritoneal dialysis (PD) catheter placement in CHF patients must be based on the patient’s characteristics, available equipment, and surgeon’s experience. An open procedure using a transversus abdominis plane block for PD catheter placement in patients with CHF is strongly recommended.

Background: Vascular calcifications (VC) are increasingly prevalent in patients with chronic kidney disease. This study aimed to assess the incidence of iliac artery calcifications in kidney transplant (KT) patients and explore the relationship between iliac VC burden measured by pelvic calcification score (PCS) and renal transplant outcomes. Methods: This prospective study involved 79 KT recipients. VC quantification, using a pre-transplant computed tomography (CT) scan, was performed by assessing calcifications in the common and external iliac arteries bilaterally, resulting in an overall PCS ranging from 0 (no calcifications) to 44 (extensive calcifications). Based on PCS values, patients were divided into three equal-sized groups: PCS Group 1 (PCS 0-4), PCS Group 2 (PCS 5-19), and PCS Group 3 (PCS > 19). Post-transplant outcomes tracked for at least 1 year were patient and graft survival, graft function (urea, creatinine, MAG-3 clearance), and incidence of MACE during the first post-transplant year. Results: Calcifications were present in at least one arterial segment in 61 patients (77.2%). One-year patient survival was 95%, and one-year graft survival was 92.4%. Patients in PCS Group 3 had significantly lower one-year patient and graft survival compared to those in PCS Group 1 and 2 (p = 0.006 and p = 0.008, respectively). MACE and renal function indicators 1-year post-transplant were similar across all PCS groups. Conclusions: Our study demonstrated that a significant majority of KT recipients exhibited iliac VC during pre-transplant CT assessments. Patients in PCS Group 3 exhibited significantly lower one-year patient and graft survival rates compared to those in PCS Groups 1 and 2, indicating that this subgroup may require more intensive post-transplant monitoring and management.

Chronic kidney disease (CKD) is among the most significant health problems, with the associated cardiovascular disease and bone metabolism disorders being the leading cause of morbidity and mortality in these patients. The aim of the study was to determine markers of bone turnover in patient sera (phosphates, calcium, alkaline phosphatase, parathyroid hormone and osteoprotegerin (OPG)) in all stages of kidney failure including kidney transplant recipients. We also wanted to determine whether dialysis vintage affects recovery of bone markers one year after transplantation. There were 164 study patients, whereas 30 healthy individuals served as a control group. Serum OPG progressively increased with decline of the glomerular filtration rate. The highest OPG concentration was recorded in dialysis group. We observed a statistically significant OPG increase in stage 2 CKD. In kidney transplant group, there was positive correlation between OPG and dialysis vintage. We also found that serum OPG was lower in patients treated with dialysis for less than 4 years prior to transplantation. We confirmed that CKD-mineral and bone disorder began in stage 3 CKD with parathyroid hormone and OPG elevation, and a statistically significant OPG increase in stage 2 CKD might be an early sign of CKD-mineral and bone disorder. Dialysis vintage longer than 4 years is associated with more significant disturbances in mineral and bone metabolism.

Data on severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) reinfections in kidney transplant recipients (KTRs) are lacking. We conducted a retrospective observational study between March 2020 and May 2022 to determine the rate of SARS-CoV-2 reinfections and their outcome in 2837 KTRs. Reinfection was defined as positive SARS-CoV-2 reverse transcription–polymerase chain reaction after initial infection and proven eradication. The primary outcomes were the need for hospitalization during the reinfection and mortality. Sixty-two patients developed SARS-CoV-2 reinfection at the median of 11 mo after the first infection (2.2% of the total cohort and 7% of patients who experienced acute coronavirus disease 2019 [COVID-19]). Sixty-six percent of patients received at least 1 dose of the anti–SARS-CoV-2 vaccine before the reinfection. Median age was 51 y, 42% were female, and 42% were asymptomatic. Twenty-two patients required hospitalization during the reinfection for a median of 10 d. Three patients died, all from respiratory insufficiency. Two were fully vaccinated, and 1 received 1 dose of vaccine. The bivariate analysis identified 10 significant predictors for the hospitalization during the reinfection (Table 1). In a multivariate analysis, proteinuria (P = 0.03; OR = 4.99) and rehospitalization after primary acute COVID-19 (P = 0.004; OR = 11.09) significantly contributed to the model. Hospitalization after reinfection was necessary in 11 patients (17.7%). Three patients died after recovery from the reinfection. Two of them were not vaccinated. TABLE 1. - Predictors of hospitalization during the SARS-CoV-2 reinfection (bivariate logistic regression analysis) Predictors β P OR 95% CI History CMV 1.96 0.02 7.13 1.2-39.1 Steroid dose 0.21 0.04 1.324 1.01-1.52 Creatinine 0.01 0.03 1.01 1.001-1.02 CKD-EPI eGFR –0.04 0.003 0.96 0.94-0.98 Proteinuria (g/24 h) 1.88 0.01 6.57 1.54-27.92 Primary SARS-CoV-2 infection Hospitalization during acute covid 1.38 0.02 4.0 1.28-12.5 Pneumonia 1.42 0.01 4.13 1.35-12.67 Stop MMF/Aza 1.18 0.04 3.26 1.01-10.59 Rehospitalization—post-COVID 2.13 <0.001 8.4 2.38-29.6 SARS-CoV-2 reinfection Diarrhea 1.96 0.02 7.13 1.30-39.1 CKD-EPI, Chronic Kidney Disease Epidemiology Collaboration; CMV‚ cytomegalovirus; COVID‚ coronavirus disease; eGFR‚ estimated glomerular filtration rate; MMF‚ mycophenolate mofetil; SARS-CoV-2‚ severe acute respiratory syndrome coronavirus 2. The hospitalization during the initial infection was identified as a risk factor for reinfection.1 In our study, hospitalization during the primary COVID-19 episode was a risk factor for hospitalization during the reinfection. However, hospitalization during the post–COVID-19 was a much stronger risk factor and remained significant in multivariate analysis. This suggests additional clinical problems that may influence the overall immunosuppressive status and increase the risk of reinfection in KTRs. Proteinuria has already been reported as a significant risk factor for hospitalization during the reinfection,2 whereas better renal allograft function had a protective role in this and previous studies.3 In cancer patients, prior vaccination did not affect mortality from reinfection.4 In the study by Morris et al, 2.4% of organ transplant recipients developed reinfection. Two of them were fully vaccinated. However, their study did not include the Omicron variant.5 In our study, vaccination did not affect hospitalization during the reinfection or mortality from reinfection. The findings in this report are subject to several limitations. The observational nature of the study limits the ability to draw causal conclusions. We had no individual-level viral strain data. Vaccine efficacy was not determined. Strengths of the present study include its multicenter nature with a large number of patients and 100% nationwide coverage of several countries. The results are accurate as our patients have negative reverse transcription–polymerase chain reaction tests after the first SARS-CoV-2 infection, showing the true reinfection incidence. However, very high heterogeneity among patients and variables raises the possibility that the predictions for hospitalization and outcomes may not stand up with the accrual of greater numbers. In conclusion, COVID-19 reinfection can occur in KTRs and may be severe. Further work is urgently needed to better understand COVID-19 reinfections.

BackgroundPeritoneal dialysis (PD) surgery include PD catheter insertion and removal. Both procedures require the use of anesthesia. The end-stage renal disease (ESRD) patients usually have severe comorbidities. The general anesthesia, because of its negative systemic effect, should be omitted in this vulnerable group of the patients. Transversus abdominis plane (TAP) block as a newer method of regional anesthesia is a technique without systemic effect and recently started to be used in ESRD patients for PD catheter placement and/or removal. Here we report a patient in whom we for the first time simultaneously removed and implanted a PD catheter by using a bilateral transversus abdominis plane block.Case PresentationThe patient was an 80-year-old man who was admitted for removal of malfunctioned PD catheter. Since the patient opted for staying on PD simultaneous implantation of catheter was planned. Because of his age and significant comorbidities, general anesthesia was avoided and bilateral TAP block become our option. In the same anesthesia, using bilateral TAP block, the old PD catheter was removed and a new one was implanted. Until now the patient is on regular PD without any complications.ConclusionThe TAP block could be used as a primary anesthetic technique in ESRD patients for PD surgery even for synchronous removal and implantation of PD catheter.

Objective: The aim of our study was to compare the values of blood pressure (BP) and pulse pressure (PP) in the brachial artery and in the central aorta by outpatient non-invasive methods in different patients age groups and according to the presence of chronic renal disease and diabetes. Design and method: The study included 110 outpatients older than 18 years of age with diagnosed and treated arterial hypertension (AH), under the care of Clinical Hospital Centre Rijeka in the period from June 1 to December 1, 2021. Peripheral BP, PP, and central aortic pressure (CAP) were measured in all patients on the same day. The average values of peripheral arterial pressure and the corresponding PP were obtained by the method of continuous blood pressure monitoring (CBPM). CAP and associated PP were measured on the same day by the method of radial arterial tonometry. Patients were divided into three groups according to the age (18–44 years, group I; 45–64 years, group II, and > 65 years, group III). Systolic and diastolic peripheral blood pressure (SPBP, DPBP), systolic CAP and diastolic CAP (SCAP, DCAP), and both peripheral and central PP (PPP, CPP) were nalysed among groups and according to the presence of chronic kidney disease (CKD). Results: In total, 98 patients were nalysed (mean age 55,08 ± 15,52 years; 79,6% essential hypertension; diabetics 12,23%; 26,53% CKD; 48,98% men). There were significant positive correlations between SPBP and SCAP, DPBP and DCAP, and PPP and CPP in group I and group III. There was no significant correlation between SPBP and SCAP (r = 0,268), and there were significant correlations between DPBP and DCAP, and PPP and CPP in group II. According to the presence of CKD, there was no significant correlation between SPBP and SCAP (r = 0,104), and there were positive correlations between DPBP and DCAP, and PPP and CPP. Conclusions: There was no significant correlation between SPBP and SCAP in 45–65 years old and CKD group, which tells us in favor of the atherosclerosis variability in these patient groups, which was expected. Further research on greater number of patients should be done.

Introduction Data on post-COVID-19 in renal transplant recipients (RTR) is scarce. We investigated the rate of hospitalizations, reasons for hospital admission, and mortality rate among RTR who survived acute COVID-19. Methods A multi-center retrospective observational cohort study measured hospital admission and death to 180 days after acute SARS-CoV-2 infection in 308 adult patients. Results The median age was 57 years, 64.9% were male. All patients had at least one comorbidity, and 26.3% had diabetes. Data on post-COVID-19 course was available for 267 patients, and 49 of them (15.9%) required hospital treatment after recovery from the acute infection. The most common indications included pneumonia (24.5%) and renal allograft dysfunction (22.4%), 7 (14.3%) had sepsis and 5 (10.2%) had thrombotic events. A median duration of the hospital stay was 12 days. Six patients (2.2%) died due to multiorgan failure, respiratory insufficiency or urosepsis. The strongest predictor for hospitalization after acute COVID-19 was hospitalization for acute SARS-CoV-2 infection, while better allograft function decreased the probability of hospitalization. Conclusion Delayed consequences of acute COVID-19 are highly prevalent and the health care systems should be prepared to respond to the needs of RTR suffering from post-COVID-19 complications.

OBJECTIVES:Our country Croatia is among the global leaders regarding deceased donation rates, yet we are facing organ shortage and concurrently a sharp decline in our acceptance rates for kidney offers. To reevaluate our organ acceptance policy, we retrospectively analyzed the factors that influenced the posttransplant outcomes of kidneys from elderly deceased donors at our center during a 20-year period and the changes to our organ acceptance criteria during Eurotransplant membership.MATERIALS AND METHODS:We studied all kidney transplants from donors ≥60 years old during the two 5-year episodes of Eurotransplant membership from 2007 to 2017 (period II and period III) and compared those data to data from the decade before Eurotransplant membership (period I, 1997-2007). Differences in acceptance rates and reasons for the decline of kidney offers between the two 5-year periods of Eurotransplant membership were analyzed.RESULTS:In period I, 14.1% of all kidney allografts were obtained from donors ≥60 years old; in period II and period III the rates were nearly 2-fold higher (27.0% and 25.7%, respectively; P = .007 and P = .008). During the first 5-year period of Eurotransplant membership (period II), we accepted significantly more grafts from marginal donors with a higher number of human leukocyte antigen mismatches compared with period I. Consequently, the 3-month survival rate of kidneys from donors ≥60 years old dropped from 91.1% to as low as 74.2% (P = .034). After application of morestringent human leukocyte antigen matching, especially in human leukocyte antigen DR, and morestringent donor acceptance criteria in period III, graft survival improved to 91.1%.CONCLUSIONS:Our experience indicates that careful selection of kidneys from elderly deceased donors and allocation to human leukocyte antigen-matched recipients is important to improve transplant outcomes.

Objectives Computerized tomography (CT) is the most accurate method for evaluating pelvic calcifications, which are of utmost importance for planning kidney transplantation (KT). The aim of our study was to evaluate the incidence and distribution of iliac artery calcifications and correlate the novel pelvic calcification score (PCS) with cardiovascular risk factors and graft and overall survival in KT patients. Methods We retrospectively included 118 KT patients operated at our institution with pretransplant pelvic CT. Calcification morphology, circumference and length of both common and external iliac arteries were independently scored by two uroradiologists. PCS was calculated as the total score sum of all three calcification features in all vessels. PCS correlation with graft and patient survival was performed. Results Calcification in at least one vascular segment was found in 79% of patients. PCS was significantly higher in male patients (p = 0.006), patients over 55 years (p < 0.001), and patients on haemodialysis (p = 0.016). Patients with a PCS >3 had significantly shorter graft and overall survival rates (p = 0.041 and p = 0.039, respectively). Conclusions The extent of iliac artery calcification in KT recipients quantified by PCS on pretransplant CT correlates with graft and overall patient survival. A PCS over three was associated with worse clinical outcomes and could become a possible prognostic factor. Advances in knowledge Our novel PCS is a robust method for quantifying iliac artery calcification burden. Since higher a PCS correlates with worse patient and graft survival, PCS has the potential to become a prognostic factor in kidney transplant patients.

In this book chapter are described different types of vascular access for hemodialysis, its forms, indications, placement and complications. The chapter is dedicated to health care professionals dealing with chronic kidney disease patients undergoing hemodialysis treatment.

COVID-19 infection in patients treated in dialysis centers is a particular challenge given that there is a significantly increased risk of transmitting the infection to medical staff, other staff of the institution, other patients, and family members of the patients. The purpose of our work is to share our experiences in the implementation of preventive and epidemiological measures with reference to patients on a chronic outpatient hemodialysis program. Nurses play an important role in education and caring for the dialysis patient.

S obzirom na sve stariju populaciju pacijenata sa završnim stupnjem kronične bubrežne bolesti, a kako bi se na Listu čekanja uvrstilo što više pacijenata za presađivanje bubrega, potrebna je temeljitija i opširna obrada potencijalnih primatelja bubrežnog presatka. Nakon dijagnostičkih postupaka trebalo bi pokušati sa svim dostupnim terapijskim mogućnostima otklanjanja kontraindikacija. Nakon uvrštavanja na Listu čekanja, potencijalne primatelje potrebno je dalje pratiti i isključiti moguće kontraindikacije. U prilog ovome ide činjenica da je posljednjih godina sve manji broj apsolutnih kontraindikacija za presađivanje bubrega. Jednako važna je temeljita obrada potencijalnog darivatelja bubrežnog presatka jer omogućuje i olakšava samu odluku o presađivanju bubrega, kao i pripremu potencijalnog primatelja bubrega za operativni zahvat, odabir imunosupresivne terapije te daljnje postupke prije i nakon presađivanja bubrega. Cilj je što više pacijenata uvrstiti na Listu čekanja prije početka liječenja dijalizom (preemptivno presađivanje bubrega) te omogućiti presađivanje od živog darivatelja, jer dosadašnja istraživanja pokazuju kako se tada postižu najbolji rezultati.

Organ transplantation is one of the most important medical achievements of the 20th century. Kidney transplantation is the most efficient method of renal replacement therapy. The first successful kidney transplantation in human was performed in 1954 in Boston, USA. In former Yugoslavia, the first kidney transplantation was performed on April 16, 1970 in Ljubljana, Slovenia, and second one on January 30, 1971 in Rijeka, Croatia. In both cases, the mother donated kidney to the son. In the article, we describe the prerequisite conditions for this operation, the characteristics of first patients, and the impact of transplantation program on the development of the hospitals and medical schools.

•Data on immunosuppressive regimens used in KTRs in South-eastern Europe are limited.•Triple therapy was the most common immunosuppressive regimen.•The most common regimen was a CNI, an antiproliferative drug and corticosteroids.•Individual CNI C0 were below the target range in a substantial proportion of KTRs.