Giornale italiano di nefrologia : organo ufficiale della Societa italiana di nefrologia最新文献

Familial Hypocalciuria Hypercalcemia (FHH) is an inherited disease with autosomal dominant transmission characterized by the presence of usually mild-to-moderate hypercalcemia, hypophosphatemia, hypocalciuria, and normal or moderately increased PTH values. Generally, FFH is asymptomatic although symptoms related to elevated plasma calcium values such as asthenia, intense thirst, polyuria, polydipsia or confusional state may occur. Three types of FHH, which differ in the genetic alterations underlying the condition, are described. The majority of FHH cases are classified as type 1 (about 65 percent of cases), due to mutation in the gene for the calcium-sensitive receptor CASR, expressed on chromosome (Chr) 3q13.3-21, which encodes for a calcium-sensitive receptor G-protein-coupled protein of the plasma membrane. FHH types 2 and 3 are due to GNA11 and AP2S1 mutations, respectively, and other genes involved in the pathogenesis of the disease have likely yet to be identified. Rarely, familial hypocalciuric hypercalcemia may not recognize a genetic cause but be caused by autoantibodies directed against CASR. The frequency of the disease is not known and is estimated, probably by default, because of paucisymptomatic presentation of the disease, to be around 1:80000 cases. Recognition of FHH is especially important for differential diagnosis with primary hyperparathyroidism, which has a much higher incidence, about 1:1000 cases. This allows for the identification of patients at risk for chondrocalcinosis and/or pancreatitis. Clinical suspicion must be raised in cases of hypercalcaemia associated with hypocalciuria, and genetic analysis is fundamental in the differential diagnosis toward forms of primary hyperparathyroidism that might result in unnecessary surgical interventions. We describe a clinical case in which a novel inactivating mutation of CASR leading to FHH type 1 was found.

Rhabdomyolysis is one of the principal causes of acute kidney disease. Multiple endogenous and exogenous causes could start this process: cocaine addiction, a social phenomenon present in our Country among young adults, is one exogenous causes. Natural stimulating alkaloid cocaine has toxic action on multiple systems, principally central nervous system and cardiovascular system. Etiopathogenesis is related either to changes in local and systemic hemodynamics, or to direct damage caused by myofibril accumulation, or to immunological events leading to vasculitis or thrombotic microangiopathies. Scientific evidences describe different therapeutic approaches: supportive therapy, extracorporeal treatments and possible removal of the pathogenic noxa, and the therapeutic apheresis plays a role yet to be confirmed in this field. We describe the case of a 52-year-old man, hospitalized in the Cardiological Intensive Care Unit of our hospital, due to serious alterations in the indices of myocardiocytonecrosis and liver function, following cocaine abuse. During hospitalization, renal function indices worsened associated to diuresis contraction and onset of metabolic acidosis, not responsive to medical therapy. Also in consideration of myoglobin high circulating levels, related to rhabdomyolysis, the patient went under a cycle of selective apheresis using adsorption with a TR350 cartridge associated to hemodialysis: after two adsorption sessions, the patient resumed spontaneous diuresis with progressive normalization of the blood indices.

The prevalence of chronic kidney disease (CKD) continues to rise globally, paralleled by an increase in associated morbidity and mortality, as well as significant implications for patient quality of life and national economies. Chronic kidney disease often progresses unrecognized by patients and physicians, despite diagnosis relying on two simple laboratory measures: estimated glomerular filtration rate (eGFR) and urine analysis. GFR measurement has been grounded in renal physiology, specifically the concept of clearance, with creatinine identified as a suitable endogenous marker for estimating creatinine clearance (CrCl). On this foundation, various equations have been developed to calculate CrCl or estimated GFR (eGFR) using four variables that incorporate creatinine and certain demographic information, such as sex and age. However, creatinine measurement requires standardization to minimize assay variability across laboratories. Moreover, the accuracy of these equations remains contentious in certain patient subgroups. For these reasons, additional mathematical models have been devised to enhance CrCl estimation, for example, when urine collection is impractical, in elderly or debilitated patients, and in individuals with trauma, diabetes, or obesity. Presently, eGFR in adults can be immediately measured and reported using creatinine-based equations traceable through isotope dilution mass spectrometry. In conclusion, leveraging insights from renal physiology, eGFR can be employed clinically for early diagnosis and treatment of CKD, as well as a public health tool to estimate its prevalence.

Introduction. Eighty percent of children with primitive nephrotic syndrome (NS) will have at least one relapse in their life. Specific risk factors could be associated with a higher incidence of relapses and a worse prognosis. This study aims to deepen the demographic and onset-related risk factors in children with known diagnosis of primitive NS attending the Pediatric Nephrology Unit of the University Hospital of Padua. Methods. Observational, descriptive study of all children (1-11 years old) with a known diagnosis of Primitive NS who attended our Pediatric Nephrology Unit between 1 January 2002 and 31 March 2023. Results. 49 patients were involved. 79.5% had at least one episode of NS relapse during their lifetime. 69.4% were classified as frequently relapsing or steroid-dependent NS. The relapse risk factor "non-Western ethnicity" was related to a worse prognosis and steroid-dependent NS classification (p = 0.041). The onset-related risk factor "thrombocytosis" appears to be related to a better prognosis (p = 0.03). Conclusion. The relapse risk factors "non-Western ethnicity" and "thrombocytosis" are characterized by worse and better prognosis, respectively. This evidence could support the follow-up of primitive NS in pediatric age.

Evaluation of a peritoneal dialysis (PD) program in a nephrology center involve qualitative and quantitative indicators on clinical outcomes. International guidelines recommend monitoring outcomes of peritoneal catheter implantation, catheter-related infections, peritonitis and purification adequacy. However, none of these parameters can determine the organizational efficiency of a peritoneal dialysis (PD) program. It is desirable that centers with PD programs serving ≤14 patients, once capable of performing the peritoneal equilibration test, either safeguard their expertise or establish collaborations with nephrology units that have well-established PD programs.

Introduction. Renal functional reserve (RFR) is the kidney capability of increasing its basal glomerular filtration rate (GFR) at least 20% after an adequate stimulus. Renal disorders have been reported in seropositive HIV patients, particularly the decrease in glomerular filtration rate (eGFR), nephrotic syndrome, and proximal tubular deficiency associated with the disease itself or the use of some anti-retroviral treatments. Thus, it was decided to carry out a prospective study in order to evaluate if RFR test was preserved in naive HIV patients. Material and Method. GFR was measured by using cimetidine-aided creatinine clearance (CACC), and RFR as described Hellerstein et al. in seropositive naive HIV patients and healthy volunteers. Results. RFR was evaluated in 12 naïve HIV patients who showed positive RFR (24.8±2%), but significantly lower compared to RFR in 9 control individuals (90.3 ± 5%). Conclusion. In this study was found that renal functional reserve was positive in naïve HIV patients, but significantly lower compared to renal functional reserve achieved by seronegative healthy individuals.

The arteriovenous fistula (AVF) represents the favorite vascular access in individuals with chronic kidney disease (CKD). Because AVF is a guarantee of survival for these patients, proper surgical packing and a timely follow-up program is crucial. Although a good objective examination of the limb site of FAV provides useful information both in planning the fistula surgery and in its surveillance and monitoring, it is now well established that the advent of instrumental diagnostics (ultrasonography, digital angiography, Angio-TC, MRI) has contributed significantly to improving primary and secondary patency of FAV and early diagnosis of vascular access complications. In this area, clinical thermography, a noninvasive and nondestructive diagnostic technique for assessing minute surface temperature differences, has shown good potential for the assessment of AVF. In fact, thermographic analysis of a limb site of AVF shows an increase in temperature at the site of the anastomosis and along the course of the arterialized vein. In this article we report our experience on the use of thermography in preoperative evaluation and postoperative surgical packing of an AVF. Further studies could validate the use of clinical thermography as a diagnostic technique to be used in the field of hemodialysis vascular accesses.

Cool dialysate has variable impact on hemodynamic stability and dialysis adequacy. Hemodynamic stability and dialysis adequacy are crucial indicators for better life expectancy and cardiovascular mortality. This research aims to evaluate the impact of cool dialysate temperature (35.5°C) compared to standard dialysate temperature (37°C) on blood pressures, pulse rate, and dialysis adequacy (Urea reduction ratio and online Kt/V) in a cross over design. Material and Methods. Consenting ESRD patients on maintenance haemodialysis (HD) with minimum 3 months dialysis vintage and functioning permanent vascular access are included for the study. Each participant had two sessions of HD at 37°C followed by two sessions at 35.5° C on a Fresenius 4008S HD machine. Systolic blood pressure (SBP), diastolic blood pressure (DBP) and Pulse rate are measured pre-HD, every hourly and post dialysis. Pre-HD Blood urea nitrogen (BUN) and post-HD BUN are measured, and Urea reduction rate was calculated for each HD session. Kt/V was calculated by ionic conductance by HD machine for each session. Results. 25 patients (5 females and 20 males) were enrolled. The mean age was 54 ± 9.58 years. Dialysis vintage was 21.48 ± 6.9 months for study participants 10 patients (40%) were diabetic nephropathy, 9 patients (36%) were presumed chronic glomerulonephritis, 2 patients (8%) were lupus nephritis and 4 patients (16%) were chronic interstitial nephritis. There was statistically no difference between pre-HD BUN (p = 0.330), post-HD BUN (p = 0.776), URR (p = 0.718) and Kt/V (p = 0.534) among the dialysis sessions done at 37°C and 35.5°C. SBP variability in the low temperature (35.5°C) group at 4th hour and post dialysis assumed statistical significance with p = 0.05 and p = 0.025 respectively. DBP variability in the low temperature (35.5°C) group at 3rd hour, 4th hour and post-dialysis demonstrated statistical significance with p = 0.027, p = 0.36 and p = 0.016 respectively. Pulse rate variability was more in the low temperature (35.5°C) group at 3rd hour and 4th hour which showed statistical significance with p = 0.037 and p = 0.05 respectively. Conclusion. Cool dialysate is non inferior to standard dialysate temperature in terms of dialysis adequacy and is associated with less variability in diastolic blood pressure, systolic blood pressure and more pulse rate variability thereby contributing to better hemodynamic stability.

Phosphorus is a macroelement found in the body, mostly in the bones as crystals of hydroxyapatite. Higher levels are found in patients affected by chronic kidney disease (CKD). Since the early stage of CKD phosphorous excretion is impaired, but the increase of PTH and FGF23 maintains its level in the normal range. In the last decades, the role of FGF23 in erythropoiesis was studied, and now it is well known for its role in anemia genesis in patients affected by conservative CKD. Both Hyperphosphatemia and anemia are two manifestations of CKD, but many studies showed a direct association between serum phosphorous and anemia. Phosphorus can be considered as the common point of more pathogenetic ways, independent of renal function: the overproduction of FGF23, the worsening of vascular disease, and the toxic impairment of erythropoiesis, including the induction of hemolysis.

Cystic fibrosis is a multisystem disease with extremely variable onset, symptoms and course. One of the onset modality but also a complication of the disease is the pseudo-Bartter syndrome, characterized by hyponatremia, hypochloremic dehydration and metabolic alkalosis in absence of any renal disease. This syndrome occurs more frequently in the first year of life and has a peak in the summer. In this article, we describe two cases of cystic fibrosis associated with pseudo-Bartter syndrome in childhood. Excluding every possible cause of metabolic alkalosis associated with hyponatremia was crucial for our diagnostic pathway, and the experience gained with the first case helped a lot with the second one.