Diagnosing Fabry nephropathy: the challenge of multiple kidney disease.

Fabry disease (FD) is an X-linked inherited lysosomal disorder due to a deficiency of the enzyme alpha-galactosidase A (α-gla) due to mutations in the GLA gene. These mutations result in plasma and lysosome accumulation of glycosphingolipids, leading to progressive organ damage and reduced life expectancy. Due to the availability of specific disease-modifying treatments, proper and timely diagnosis and therapy are essential to prevent irreversible complications. However, diagnosis of FD is often delayed because of the wide clinical heterogeneity of the disease and multiple organ involvement developing in variable temporal sequences. This observation is also valid for renal involvement, which may manifest with non-specific signs, such as proteinuria and chronic kidney disease, which are also common in many other nephropathies. Moreover, an additional confounding factor is the possibility of the coexistence of FD with other kidney disorders. Thus, suspecting and diagnosing FD nephropathy in patients with signs of kidney disease may be challenging for the clinical nephrologist. Herein, also through the presentation of a unique case of co-occurrence of autosomal dominant polycystic kidney disease and FD, we review the available literature on cases of coexistence of FD and other renal diseases and discuss the implications of these conditions. Moreover, we highlight the clinical, laboratory, and histological elements that may suggest clinical suspicion and address a proper diagnosis of Fabry nephropathy.

[Campylobacter: a vintage pathogen to the fore].

Campylobacteriosis is caused by Gram bacteria. Most common species are C. jejuni and C. coli. Campylobacteriosis is a rare cause of sepsis, and in some European countries it is more common than salmonellosis, becoming a public health problem. We have treated a 66-year-old patient, hypertensive, ischemic cardiopathic, scheduled for coronary angiography, hospitalized with AKI, in a state of shock after some days of acute diarrhea. Because of the pathogen's seasonal nature and the patient's clinical features, in addition to common coproculture also Campylobacter has been sought, and found. Treated with volume repletion and antibiotics, within one week normal kidney functions were fully restored. He had a coronary angiography a week after being discharged from the hospital.

[COVID-19 emergency management at the Nephrology and Dialysis Unit in Savona, Albenga and Cairo Montenotte].

Our Nephrology and Dialysis Unit includes three Haemodialysis Centres based in Savona, Albenga and Cairo Montenotte. These provide assistance to 150 patients. We have a Peritoneal Dialysis Clinic with 35 patients, two Post-Transplant Clinics with about 120 patients in follow-up in Savona and Albenga, and three Pre-Dialysis Clinics across the three locations. Finally, there is an autonomous hospital ward with 15 beds that has continued its activity, even if at reduced regimes. With this report we intend to share the strategy we used to prevent the spread of the SARS CoV-2 virus among the patients and the staff at our Unit, following the National, Regional and Corporate guidelines published during "Phase 1". We decided that the Haemodialysis Centres needed to remain a safe place. To insure this, medical and nursing staff and patients had to behave conscientiously and collaboratively, and according to the official Hospital guidance. Our main concern was to protect patients who, despite suffering complications and being at high risk because of their age, immunodepression and multiple comorbidities, were forced to leave their house three times a week to be treated with dialysis. The results of this strategy have ensured that, of the 150 patients undergoing haemodialysis, only 3 have been tested positive: no patients in Albenga, 2 in Savona and 1 in Cairo Montenotte, all of them lived and were infected in their nursing homes. Also, there was no positivity among any of the staff members across the three locations. Our results are extremely positive and confirm the validity that prevention and protection procedures had in the earlier stages of the pandemic.

[Multidisciplinary management of a typical case of acute kidney failure in the course of COVID-19 infection].

We report the case of a 68-year-old patient who arrived at the hospital with a fever and a cough for 7 days, a history of high blood pressure and chronic kidney failure stage 2 according to CKD-EPI (GFR: 62 ml/minute with creatinine: 1.2 mg/dl). Home therapy included lercanidipine and clonidine. A chest radiograph performed in the emergency department immediately showed images suggestive of pneumonia from COVID-19, confirmed in the following days by a positive swab for coronavirus. Kidney function parameters progressively deteriorated towards a severe acute kidney failure on the 15th day, with creatinine values of 6.6 mg/dl and urea of 210 mg/dl. The situation was managed first in the intensive care unit with CRRT cycles (continuous renal replacement therapy) and then in a "yellow area" devoted to COVID patients, where the patient was dialyzed by us nephrologists through short cycles of CRRT. In our short experience we have used continuous techniques (CRRT) in positive patients hemodynamically unstable and intermittent dialysis (IRRT) in our stable chronic patients with asymptomatic COVID -19. We found CRRT to be superior in hemodynamically unstable patients hospitalized in resuscitation and in the "yellow area". Dialysis continued with high cut-off filters until the normalization of kidney function; the supportive medical therapy has also improved the course of the pathology and contributed to the favorable outcome for our patient. During the COVID-19 pandemic, our Nephrology Group at Savona's San Paul Hospital has reorganized the department to better manage both chronic dialyzed patients and acute patients affected by the new coronavirus.

Resistive index and antihypertensive therapy in kidney transplantation.

OBJECTIVES: To investigate in kidney transplanted patients any possible correlation between intrarenal Doppler Resistive Index (RI) and arterial hypertension (AH); to detect any possible angiotensin converting enzime inhibitors (ACE-I)/angiotensin receptor blockers (ARB) influence on RI. MATERIAL AND METHODS: Our retrospective study took into consideration 80 consecutive renal allograft sonography scans of 54 patients (37 males) under observation in our centre over a one-year period (2003). Patients were evaluated about their renal function by means of serum creatinine dosage (mg/dL). The seriousness of AH was indirectly evaluated on the basis of the number of antihypertensive drugs taken daily. RESULTS: RI correlates with age (Pearson, 0.55/95% CI 0.32-0.71; p < 0.0001), and serum creatinine (Pearson, 0.58/ 95% CI 0.39-0.72; p < 0.0001). RI and serum creatinine do not differ in patient with or without ACE-I/ARB in their therapy (RI-Mann Whitney p = 0.517; creatinine-Mann Whitney, p = 0.0503). However, RI correlates with the number of antihypertensive drugs (Spearman rank correlation 0.59/95% CI 0.41-0.73; p < 0.001) and patients with three or more antihypertensive drugs in their therapy show higher RI than patients with one or no antihypertensive drugs (0.66 versus 0.8; independent samples t test, p < 0.0001). CONCLUSIONS: in a small sample of kidney transplanted patients, RI is not influenced by ACE-I/ARB therapy, but by the amount of antihypertensive therapy.

Sirolimus-eluting vs uncoated stents for prevention of restenosis in small coronary arteries: a randomized trial.

CONTEXT: Percutaneous coronary revascularization of small vessels is associated with a high restenosis rate. Sirolimus-eluting stents reduce restenosis in simple and previously untreated lesions of large coronary arteries, but their outcomes in small vessels have not been adequately investigated. OBJECTIVE: To determine whether sirolimus-eluting stents are associated with a reduced 8-month rate of angiographic restenosis in comparison with an uncoated stent. DESIGN, SETTING, AND PATIENTS: This was a randomized, multicenter, single-blind, prospective trial performed with 257 patients undergoing percutaneous coronary revascularization for ischemic heart disease, and who had a previously untreated atherosclerotic lesion located in a small segment with a diameter of 2.75 mm or less, in 20 Italian centers between August 2002 and December 2003. INTERVENTION: Patients were randomly assigned to receive a sirolimus-eluting stent (129 patients) or an uncoated stent having an identical architecture and radiographic appearance (128 patients). MAIN OUTCOME MEASURES: The primary end point was the 8-month binary in-segment restenosis rate; secondary end points included procedural success and the 8-month rate of major adverse cardiac and cerebrovascular events. RESULTS: The mean (SD) reference diameter of the treated segment was 2.2 (0.28) mm; the lesion length, 11.84 (6.15) mm. After 8 months, the binary in-segment restenosis rate was 53.1% (60/113) in the patients receiving an uncoated stent and 9.8% (12/123) in those receiving a sirolimus-eluting stent (relative risk [RR], 0.18; 95% confidence interval [CI], 0.10-0.32; P<.001). Fewer patients randomized to sirolimus-eluting stents experienced major adverse cardiac events (12/129 [9.3%] vs 40/128 [31.3%]; RR, 0.30; 95% CI, 0.15-0.55; P<.001) mainly because of a reduction in target lesion revascularization (9/129 [7%] vs 27/128 [21.1%]; RR, 0.33; 95% CI, 0.14-0.70; P = .002) and myocardial infarction (2/129 [1.6%] vs 10/129 [7.8%]; RR, 0.20; 95% CI, 0.01-0.93; P = .04). CONCLUSION: The use of sirolimus-eluting stents to treat atherosclerotic lesions in small coronary arteries reduces restenosis and may also reduce major adverse cardiac events.