[The unusual couple: a clinical case of coexistence between aHUS and Fabry's disease].

Atypical hemolytic-uremic syndrome (aHUS) is a rare, potentially lethal (1-4) systemic disorder, capable of affecting both adults and children, causing thrombotic microangiopathy (TMA) (5) that leads to the formation of thrombus within small blood vessels with multiple organ failure. The pathogenesis of the aHUS is part of a sort of chronic and uncontrolled activation of the complement system by genetic mutation of some proteins usually responsible for its self-regulation (6,7). Today, the rapid diagnosis of the disease and the timely start of treatment with eculizumab, improve outcomes of renal failure, stroke and heart attack (8-10). Fabry disease is a rare tesaurismosis, X linked, due to the deficiency of the lysosomal enzyme alpha-galactosidase A (11-13), necessary for the physiological catabolism of glycosphingolipids. Multisystem clinical manifestations lead to a serious degenerative pathology. The diagnostic suspicion based on anamnesis and careful research of the symptoms and then confirmed by the enzymatic dosage of alpha galactosidase or by molecular analysis, allows the early treatment of the patient with enzyme replacement therapy, guaranteeing the resolution and/or slowing down the evolution of the disease, especially in the brain, heart and kidneys. In this report, we describe the clinical case of a patient who is a carrier of both rare diseases.

Quality of life of hemodialysis patients in Central and Southern Italy: cross-sectional comparison between Hemodiafiltration with endogenous reinfusion (HFR) and Bicarbonate Hemodialysis.

INTRODUCTION: in hemodialysis (HD) patients, poor health-related quality of life (HR-QoL) is prevalent and associated with adverse outcomes. HR-QoL is strictly linked to nutritional status of HD patients. Hemodiafiltration with endogenous reinfusion (HFR) is an alternative dialysis technique that combines diffusion, convection and absorption. It reduces burden of inflammation and malnutrition and this effect may cause beneficial effect on HR-QoL. However no data on HR-QoL in HFR is currently available. METHODS: we designed a cross-sectional multicentre study in order to compare the HR-QoL in patients treated with HFR versus Bicarbonate HD (BHD). We enrolled adult patients HFR treated for at least 6 months, with life expectancy greater than six months and without overt cognitive deficit. The recruited patients in HFR were matched for age, gender, dialytic vintage and performance in activities of daily living (Barthel index) with BHD treated patients. SF-36 questionnaire for the assessment of HR-QoL was administered. RESULTS: one hundred fourteen patients (57 HFR vs 57 BHD) were enrolled (age 65.413.5 years; dialysis vintage 5.4 (3.3-10.3) years; 53% males) from 18 dialysis non-profit centres in central and southern Italy. As result of matching, no difference in age, gender, dialytic age and Barthel index was found between HFR and BHD patients. In HFR patients we observed better values of physical component score (PCS) of SF-36 than BHD patients (P=0.048), whereas no significant difference emerged in the mental component score (P=0.698). In particular HFR patients were associated with higher Physical Functioning (P=0.045) and Role Physical (P=0.027). CONCLUSIONS: HFR is associated with better physical component of HR-QoL than BHD, independently of age, gender, dialysis vintage and invalidity score. Whether these findings translate into a survival benefit must be investigated by longitudinal studies.

[Calcific uremic arteriolopathy (Calcyphilaxis): a rare disease? Report of three cases]. / Arteriolopatia calcifica uremica: un'entità clinica rara? Report di tre casi.

INTRODUCTION: Calcific uremic arteriolopathy (CUA; CALCYPHILAXIS) is a syndrome that occurs prevalently in patients with chronic kidney disease on dialysis. It is characterized by the medial calcification of skin small arteries leading to necrotic lesions. Several risk factors have been identified: obesity, female gender, diabetes mellitus, hyperphosphatemia, inflammation, treatment with vitamin D, calcium-based phosphate binders and warfarin. MATERIALS AND METHODS: We report three cases of CUA observed from October 2011 to September 2014. RESULTS: The mean age at diagnosis was 56 years (range 33-68). Biochemistry showed: mean levels of PTH=1277 pg/ml (range 1000-1696), serum calcium =10.2 mg/dl (range 9.4-11.1), phosphorus=4.5 mg/dl (range 3.4-5.5). All patients were taking vitamin D, two patients were on warfarin therapy. Following actions were undertaken: interruption of calcium-based phosphate binders, vitamin D and warfarin therapy, initiation of cinacalcet and sodium thiosulfate therapy, use of dialysate with lowest available calcium concentration (1.25 mmol/l), Hyperbaric Oxygen Therapy, surgical dressings of skin lesions three times a week. Significant improvement was observed in mean levels of PTH (331 pg/ml, range 200-465), serum calcium (8.3 mg/dl, range 7.4-9.6) and phosphorus (3.4 mg/dl, range 2.6-3.8). In two out of three patients complete healing of ulcerative lesions was obtained. CONCLUSIONS: These cases underline the importance of early diagnosis of CUA especially in patients with concomitant risk factors and careful clinical monitoring, being CUA characterized by a rapid evolution and high mortality.

Awareness of hypertension and proteinuria in randomly selected patients in 11 Italian cities. A 2005 report of the National Kidney Foundation of Italy.

Arterial hypertension and proteinuria are risk factors for chronic kidney disease. A mobile clinic was parked in a central plaza of 11 Italian cities to check blood pressure (BP), prescribe antihypertensive drugs, assess for proteinuria, and provide awareness about hypertension. Among 3757 patients, 56% were hypertensive, 37% were not diabetic nor proteinuric with BP >or=140/90 mm Hg, 17% were diabetic or proteinuric with BP >or=130/80 mm Hg, and 11% were on treatment with BP at target. Among 1204 treated patients, 400 (33%) had controlled BP. Among all 2114 hypertensive patients, only 1344 (64%) were aware of their hypertension. Awareness was greater among treated patients at target (99%). As many as 523 (14%) patients had proteinuria >or=30 mg/dL. The authors conclude that awareness of people walking in the street about their BP and proteinuria is insufficient. Mobile screening clinics may increase public awareness and detection of hypertension and proteinuria in the general community and detect patients at risk for chronic kidney disease.