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Introduction Published data on hypertension incidence and management in Anderson–Fabry disease are scant and the contribution of elevated blood pressure to organ damage is not well recognized. Aim Therefore, we have assessed blood pressure values and their possible correlations with clinical findings in a well described cohort of Fabry patients. Methods Between January 2015 and May 2019, all adult Fabry patients (n = 24 females, n = 8 males) referred to our institute were prospectively enrolled. During the first examination patient’s genotype and clinical characteristics were recorded. Blood pressure data were obtained by standard observed office measurements followed, within 6 months, by ambulatory blood pressure monitoring and home self-recordings. Organ involvement, including kidneys, heart and brain, was monitored over time. Consequently, patients were defined as clinically stable or progressive through the Fabry Stabilization Index. Results The standard office measurements have diagnosed hypertension in three (9.37%) patients, but the ambulatory monitoring showed elevated blood pressure in six (18.75%) patients, revealing three cases of masked hypertension. All the hypertensive patients were females and, compared with normotensive subjects, they presented a lower glomerular filtration rate (p < 0.05) and a more advanced cardiac hypertrophy (p < 0.05). Four (66.7%) of them were diagnosed with a progressive form of the disease through the Fabry Stabilization Index while the majority of the normotensive group (84.6%, n = 19) was stable over time. No correlation was found between the prevalence of hypertension and the type of mutations causing Fabry disease. Conclusion Hypertension can be found in a restricted portion of clinically stable Fabry patients. In contrast, patients presenting with a progressive organ involvement, particularly renal impairment, have a major risk of developing uncontrolled blood pressure, and should be followed carefully. Moreover, the ambulatory blood pressure monitoring proved to be useful to reveal masked hypertension, which can contribute to the progressive worsening of the organ damage. Therefore, a proper diagnosis and therapy of hypertension may improve the outcome of Fabry patients. Supplementary Information The online version contains supplementary material available at 10.1007/s40292-021-00450-0.

Background and Aims Anderson-Fabry disease (AFD) is a rare X-linked sphingolipid disorder caused by deficient activity of the enzyme α-galactosidase A leading to a progressive lysosomal accumulation of globotriaosylceramide and a consequent organ failure. Data on blood pressure (BP) values in AFD patients are scanty, however those available have revealed a significant prevalence of high blood pressure, especially in case of moderate to severe kidney impairment, becoming more prevalent with the progression of the renal disease. High blood pressure and hypertension major risk factors prevalence were analysed among a single Fabry cohort. Method Between January 2015 and May 2019, 32 AFD patients, 24 (75%) female and 8 (25%) male, referred to the Fabry Disease Unit, Nephrology Division of San Gerardo Hospital (Monza, Italy), were enrolled. All patients were Caucasian with an average age of 50±12.2 years old. Data regarding hypertension were obtained by 24h ambulatory blood pressure monitoring (ABPM), home self-monitoring, and repeated ambulatory measurements (Table 1). Patients were defined hypertensive according to 2018 ESC/ESH Guidelines. The severity and the stability of AFD were assessed in each patient with the Fabry Stabilization Index (FASTEX). Major risk factors for hypertension were also evaluated (Table 2). Results The 24h ABPM revealed uncontrolled high blood pressure in 6 (18.7%) patients with consensual home and office BP alterations. All patients were female with an average age of 58±9.9 years old. They had mostly a sedentary life-style, half of them had a diagnosis of dyslipidaemia and one was obese (BMI > 30). In the normotensive group, half of the patients were sedentary, less than a half of them was affected by dyslipidaemia and the average BMI was between the normal ranges. Other known risk factors for hypertension were scanty represented between the two groups. No one had history of transient ischemic attack or stroke. In the normotensive group the majority of patients had a normal or near-normal renal function, while in the hypertensive group one-third showed mild proteinuria and renal impairment with a moderate reduction in glomerular filtration rate. The FASTEX index showed that 84.6% of the normotensive group were stable, while 66.6% of the hypertensive group were not. In 9 (34.6%) patients of the normotensive group ACE-inhibitors/angiotensin-receptor blockers were previously introduced for the treatment of proteinuria in normal blood pressure values, while 2 (33.3%) patients of the hypertensive group received antihypertensive drugs. Conclusion In this observational study, the majority of AFD patients were normotensive. The prevalence of hypertensive patients was lower than 20%. Overall patients had a low prevalence of well-known risk factors associated with the development of hypertension. The link between AFD disease and the development of hypertension has not been fully studied yet. Hypertension in AFD patients might be due to Fabry associated vascular or renal disease or because of an associated essential hypertension. Arterial blood pressure seems to be relatively well controlled among AFD patients presenting with a low prevalence of risk factors for hypertension and a mild and stable organ involvement. In contrast, unstable patients with a high prevalence of well-known hypertension risk factors, particularly renal impairment, should be followed carefully, because they have a major risk of developing uncontrolled blood pressure. Further prospective studies with a larger sample size are needed to better investigate the pathophysiology of hypertension in AFD patients.

Backgound Fungal peritonitis (FP) is one of the most important causes of peritoneal dialysis (PD) failure, often burdened by increased morbility and mortality. This study evaluates the clinical course of FP cases that arose between 1983 and 2016 in a single PD unit. Methods We conducted a retrospective observational analysis of FP episodes recorded in the Baxter POET (Peritonitis Organism Exit sites Tunnel infections) registry and clinical records. FP incidence rate, PD and patients’ survival and clinical characteristics of the study population were analysed, taking into account the evolution of clinical practice during the study period as a result of technical innovation, scientific evidence and guideline history. Results Fourteen FP cases (2.8%) were detected. The overall incidence of PD peritonitis was one episode/27 patient-months. Candida parapsilosis was the most frequently (50%) detected yeast. Seventy-five per cent of cases were considered secondary FP. This group experienced 2.6±1.7 bacterial peritonitis before FP, most frequently due to Staphylococcus and Enterococcus species. Most patients were treated with fluconazole for ≥8 days. All subjects were hospitalized for a median time of 25 days. Tenckhoff catheter removal occurred in all cases of FP and all patients were transferred to haemodialysis. Two patients died. From December 2010 to December 2016, no FP episodes were recorded. Conclusions FP is confirmed as a significant cause of PD drop out and increases patients’ mortality risk. Prompt diagnosis of FP, targeted antifugal therapy and rapid PD catheter removal are essential strategies for improved patient and PD survival.

Enzyme Replacement Therapy for Fabry Disease Anderson-Fabry disease (FD) is a X-linked lysosomal storage disorder, which involves glycosphingolipids metabolism. Specific treatment for FD has been available in the last two decades, after the development and commercialization of recombinant human alfa-galactosidase A. Since then enzyme replacement therapy (ERT) has changed the natural history of the disease. Two different enzymatic formulations are available: agalsidase alfa and agalsidase beta at different dosages. The safety and efficacy profiles are similar. ERT induces Gb3 deposits reduction in renal and cardiac biopsies, improves quality of life, reduces pain and GI symptoms, decreases left ventricular mass and slows down renal function decline. In case of organ involvement, clinical evidence confirms the need to treat all patients with enzyme therapy, both male and female. In all other clinical settings, the decision to start ERT is controversial, because of the extremely variable clinical manifestations of FD. However, data suggest a greater response to ERT if started as early as possible in any patients. Timely treatment appears to be effective in stabilizing and possibly delaying FD progression. ERT infusion reactions due to allergic hypersensitivity or IgG antibody development could occur but can be easily managed. In-hospital and at home infusions are possible. The wide genetic and phenotypic heterogeneity observed in all FD patients requires a tailored approach to treatment options. Patients should be referred to an expert multidisciplinary team for the long term management of this challenging disease.

Fungal peritonitis is a rare but serious complication of peritoneal dialysis. This infection has been reported to be mostly caused by Candida species, and less frequently by a variety of other yeasts and moulds, such as Aspergillus, Penicillium, and Fusarium spp. are commonly isolated from soil, plants and environmental surfaces, and rarely from non-immunosuppressed subjects. In this report, author describe a case of infection caused by Fusarium solani in a 59-year-old man undergoing continuous ambulatory peritoneal dialysis. The fungus was recovered from cultures of peritoneal dialysate and the pathogen identification was carried out by mass spectrometry. The patient's outcome was favorable without complications after liposomal amphotericin B treatment along with peritoneal dialysis catheter removal.

The one-anastomosis laparoscopic gastric bypass (OAGB) has been proven to provide good weight loss, comorbidity improvement, and quality of life with follow-up longer than five years. Although capable of improving many obesity-related diseases, OAGB is associated with post-operative medical complications mainly related to the induced malabsorption. A 52-year-old man affected by nephrotic syndrome due to a focal segmental glomerulosclerosis underwent OAGB uneventfully. At three months post-surgery, the patient had lost 40kg, reaching a BMI of 32. The patient was admitted to the nephrology unit for acute kidney injury with only mild improvement in renal function (SCr 9 mg/dl); proteinuria was still elevated (4g/24h), with microhaematuria. A renal biopsy was performed: oxalate deposits were demonstrated inside tubules, associated with acute and chronic tubular and interstitial damage and glomerulosclerosis (21/33 glomeruli). Urinary oxalate levels were found to be elevated (72mg/24h, range 13-40), providing the diagnosis of acute kidney injury due to hyperoxaluria, potentially associated to OAGB. No recovery in renal function was observed and the patient remained dialysis dependent. Early and rapid excessive weight loss in patients affected by chronic kidney insufficiency could be associated with the worsening of renal function. Increased calcium oxalate levels associated with OAGB-related malabsorption could be a key factor in kidney injury.

A laparoscopic approach represents an effective alternative to open surgery in patients undergoing peritoneal dialysis (PD). In these patients, conventional thinking provides for removal of the peritoneal catheter during left colon resections because of higher risk of patient contamination and peritonitis. The present paper describes 3 cases of laparoscopic left hemicolectomy for colon cancer performed in PD patients without complications and without peritoneal catheter removal, leading to subsequent early PD resumption. Three normotype PD patients affected by early-stage sigmoid colon adenocarcinoma (T1-T2, M0, N0) underwent integrated surgical and nephrological management to reduce peritoneum stress, infective risk and postoperative complications. The day before surgery, patients were shifted to isovolumetric hemodialysis through tunneled central venous catheter. All patients underwent laparoscopic left hemicolectomy without Tenckhoff catheter removal. The postoperative period was uneventful, with concomitant antibiotic prophylaxis until the fifth day after surgery. Flushing of the PD catheter was performed twice a week postoperatively. Peritoneal dialysis was recovered 4 weeks after surgery in 2 cases with a well-maintained dialytic adequacy. One patient did not proceed to PD due to improvement of renal function after surgery. In selected PD patients, a minimally invasive surgical approach combined with careful nephrological management may represent a valid and safe strategy to treat early-stage colon cancer, avoiding PD drop-out.

Vitamin D is a common treatment against secondary hyperparathyroidism in renal patients. However, the rationale for the prescription of vitamin D sterols in chronic kidney disease (CKD) is rapidly increasing due to the coexistence of growing expectancies close to unsatisfactory evidences, such as (1) the lack of randomized controlled trials (RCTs) proving the superiority of any vitamin D sterol against placebo on patients centered outcomes, (2) the scanty clinical data on head to head comparisons between the multiple vitamin D sterols currently available, (3) the absence of RCTs confirming the crescent expectations on nutritional vitamin D pleiotropic effects even in CKD patients, (4) the promising effects of vitamin D receptors activators (VDRA) against proteinuria and myocardial hypertrophy in diabetic CKD cohorts, and (5) the conflicting data on the impact on mortality of VDRA versus calcimimetic centered regimens to control CKD-MBD. The present review arguments these issues focusing on the opened questions that nephrologists should consider dealing with the prescription of nutritional vitamin D or VDRA and with the choice of a VDRA versus a calcimimetic based regimen in CKD-MBD patients.

Phosphate binders represent a common intervention in renal patients affected by chronic kidney disease and mineral bone disorder (CKD-MBD). Although counteracting P overload through binders adoption is argued by a physiology-driven approach, the efficacy of this intervention on hard endpoints remains poorly evident. The inconsistencies between rationale and methodological weakness, concerning the clinical relevance of P binding in chronic kidney disease, will be herein discussed with special focus on the need of a multi-factorial treatment against CKD-MBD, which is currently more achievable due to the variety of P binders and the rapid evolution of nutritional therapy, dialysis techniques and nursing science.

The rate of fragile elderly patients affected by chronic kidney disease stage 5-5D is rapidly increasing. The decision making process regarding the start and the withdrawal of dialysis is often difficult for all those involved: patients, relatives, nephrologists and renal nurses. Therefore nephrologists and renal nurses are called to rapidly improve their theoretical and practical competence about the end-of-life care. The quality of clinical intervention and management requires a sound expertise in the ethical, legal, organizational and therapeutic aspects, not trivial nor even deductible from purely private and individual opinions nor from traditional medical practice. The present paper discusses the ethical and legal implications related to the start rather than to withdrawn from dialysis, preferring a non-dialysis medical treatment and / or palliative care. Operational aspects regarding the regional network of palliative care, the path of shared decision making process and a systematic approach to optimize medical and nursing interventions through the Liverpool Care Pathway program are discussed thereafter.

This study has been performed in the Nephrology and Dialysis Unit, in Desio Hospital, Italy. The aim of this study is to evaluate, starting from research questions, which information is given to patient in the pre-dialysis colloquia for his/her chosen dialysis methods. Moreover, the study evaluated feelings, emotions and fears since the announcement of the necessity of dialysis treatment. The objective of the study was reached through the interview with patients on dialysis. The fact-finding survey was based on the tools of social research, as the semi-structured interview. Instead of using the questionnaire, even though it make it easier to collect larger set of data, the Authors decided to interview patients in person, since the interview allows direct patient contact and to build a relationship of trust with the interviewer, in order to allow patient explain better his/her feeling.

La dialisi peritoneale offre diversi vantaggi rispetto all'emodialisi, inclusa una migliore qualità di vita. Nonostante la sua evoluzione scientifica e tecnologica, resta una metodica marginale. A nostro avviso, aIcuni dei principali fattori responsabili della bassa penetranza della dialisi peritoneale sono da ricercare nella debole motivazione dei nefrologi, appesantita da un aggiornamento spesso inadeguato di medici e infermieri, dalla scarsa formazione dei medici specializzandi e dalla mancanza di un ambulatorio correttamente organizzato con personale motivato e dedicato. Ulteriori investimenti ad ampio spettro sono, quindi, necessari per risollevare le sorti della dialisi peritoneale; tra essi, l'investimento sulla ricerca, sulla formazione e sull'integrazione tra ospedale e territorio.

Peritoneal dialysis (PD) offers many advantages over hospital-based hemodialysis, including a better quality of life. Despite the scientific and technological developments, PD is generally underused, a fact that can be attributed not only to a lack of knowledge and education amongst renal clinicians and nurses, but also to an inappropriate PD outpatient management by dedicated staff. To expand the diffusion of PD we need more scientific research, training, and implementation of human resources.

BACKGROUND:: American and European guidelines recommend the distal radial-cephalic fistula (dRCF) as the first and best hemodialysis access in patients with end-stage renal disease (ESRD). However, this kind of arteriovenous fistula (AVF) shows a limited primary unassisted patency and frequently needs surgical revisions or angiographic procedures, or both. When dRCF is not feasible, guidelines suggest a proximal brachiocephalic AVF. The middle-arm fistula (MAF), or autogenous forearm radial-median direct access, has been suggested as a possible alternative approach. This study evaluated MAF primary unassisted patency, the most frequent causes of MAF failure, and the possible related factors. METHODS:: Data on patients with a MAF placed from January 1991 until June 2008 were retrospectively collected. The probability of MAF failure overall and by the main subgroups was estimated according to Kaplan-Meier with Greenwood standard error (SE). Comparison of failure among different subgroups was performed using the log rank test in univariate analyses. The Cox regression model was used to investigate factors that independently affected the overall hazard of failure and cause-specific hazard of thrombosis. RESULTS:: At the end of follow-up, 14.0% of MAF failed (11.6% thrombosis, 1.7% stenosis, 0.7% failed maturation), and 44.2% of MAF were still working. Cumulative probability of MAF unassisted primary patency after 4 years from the creation was 79%. Univariate analyses highlighted that women (P = .019), underweight patients (P = .010), and MAF implantation after starting hemodialysis (P < .001) had a higher risk of MAF failure for any cause than men, normal and overweight patients, and MAF implanted before starting hemodialysis. Results of the Cox multivariate analysis for overall MAF failure confirmed that only MAF implantation before starting hemodialysis is a protective factor against any failure (P = .003), whereas female gender (P = .016) was associated with an increase of the thrombosis hazard ratio to 2.04 (95% confidence interval, 1.14-3.63). CONCLUSION:: Our data demonstrate that MAF has a good unassisted primary patency and suggest that this kind of AVF could be a valuable alternative surgical approach when dRCF is not feasible in ESRD patients