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.
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.
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.
Abstract
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.
Figure:
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) 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.
ABSTRACT
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.
PDF
