Elevated Ambulatory Blood Pressure Measurements are Associated with a Progressive Form of Fabry Disease.

 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.

Case Report: Acute kidney failure leading to permanent haemodialysis due to hyperoxaluria following one-anastomosis gastric bypass-related rapid weight loss.

The one-anastomosis 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.

Fungal peritonitis in peritoneal dialysis: a 34-year single centre evaluation.

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.

Laparoscopic Surgery in Patients on Peritoneal Dialysis: A Review of the Literature.

Peritoneal dialysis (PD) is an effective renal replacement therapy for the treatment of end-stage renal disease. Patients on PD undergoing abdominal open surgery often fail to resume PD. Laparoscopic surgery has recently become a serious alternative to open surgery in patients on PD to treat different abdominal pathologies. However, only a few studies have reported successful procedures without Tenckhoff catheter removal. The aim of this review is to describe how a laparoscopic technique can allow PD patients to deal with abdominal surgery without shifting to hemodialysis. Only 50 cases of laparoscopic surgical intervention in PD patients have been published to our knowledge. These case series largely concern laparoscopic cholecystectomies, appendectomies, nephrectomies, colectomies, and bariatric procedures. The reported cases show how laparoscopic surgery can be accepted as a valid option for several abdominal surgical procedures in patients on PD with good outcomes and early resumption of PD.

Laparoscopic Left Hemicolectomy for Colon Cancer in Peritoneal Dialysis Patients: A Valid and Safe Surgical Technique to Ensure Peritoneal Dialysis Survival.

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.

[Phosphate binders in renal patients: a point estimate from rationale, through evidences to the real world setting]. / Quali risultati abbiamo ottenuto sino a oggi con i chelanti del fosforo? Razionali, evidenze e mondo reale.

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.

[Quality end of life in uremic patients: theory and practice]. / Qualità del fine vita nel paziente uremico: dalla teoria alla pratica.

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.

The interview with a patient on dialysis: feeling, emotions and fears.

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.

Which vitamin D in CKD-MBD? The time of burning questions.

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.

The middle-arm fistula as a valuable surgical approach in patients with end-stage renal disease.

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.