Biomedical subjects

Alberto Edefonti

Publications and source records attributed to Alberto Edefonti.

28 records · Page 2Linked to original sources

PubMed2003

How good is blood pressure control among treated hypertensive children and adolescents?

BACKGROUND: Since good control of arterial hypertension is of paramount importance, the present study was carried out to evaluate blood pressure control in pediatric patients with hypertension receiving regular medical care. STUDY DESIGN: The charts of 80 hypertensive children receiving medical care were reviewed. Their antihypertensive medication had been stable during three or more separate clinic visits and during 3 or more months. Patients with office hypertension were excluded. RESULTS: Blood pressure values higher than the corresponding 95th centiles were noted in 20 of the 80 patients. Hypertension was systolic in seven, diastolic in four and both systolic and diastolic in nine patients. The number of prescribed antihypertensive drugs and the number of doses/day of prescribed antihypertensive drugs was similar in patients with good and in those with poor blood pressure control. Plasma creatinine was higher in patients with poor than in those with good blood pressure control. CONCLUSIONS: The present survey indicates that the goal of antihypertensive medication is not achieved in a noticeable number of pediatric patients with treated hypertension.

Adolescent↗

PubMed2003

Epidemiology of chronic renal failure in children: data from the ItalKid project.

OBJECTIVE: The ItalKid Project is a prospective, population-based registry that was started in 1990 with the aim of assessing the epidemiology of childhood chronic renal failure (CRF), describing the natural history of the disease, and identifying factors that influence its course. This article reports the epidemiologic results. METHODS: Prevalent and incident cases of CRF in children and adolescents were identified throughout Italy (total population base: 16.8 million children) by regularly asking all of the pediatric hospitals and adult nephrology units potentially involved in caring for children with kidney disease to report all cases that meet the inclusion criteria and then to update the clinical information regarding all previously reported patients on an annual basis. The inclusion criteria were 1) creatinine clearance (Ccr; according to Schwartz's formula) <75 mL/min/1.73 m2 bsa (predialysis) and 2) an age of <20 years at the time of registration. RESULTS: By December 31, 2000, 1197 patients (803 boys) had been registered. The mean incidence was 12.1 cases per million (range: 8.8-13.9), and the (point) prevalence was 74.7 per million of the age-related population. The mean age at registration was 6.9 +/- 5.4 years, and the mean Ccr was 41.7 +/- 20.5 mL/min/1.73 m2. The leading causes of CRF were hypodysplasia associated with urinary tract malformations (53.6%) and isolated hypodysplasia (13.9%), whereas glomerular disease accounted for as few as 6.8%. Hypodysplasia associated with primary vesicoureteral reflux (VUR) alone was responsible for as many as 25.8% of the cases, thus being the leading single cause with a female-to-male ratio of 1:3.2. The diagnosis of VUR was established early in life at an overall median age of 3 months (range: 0-180). However, the diagnosis was made significantly later among girls, whose median age at diagnosis was 9 months (range: 0-156; 95% confidence interval: 21.2-49.3) as against 2 months among boys (range: 0-180; 95% confidence interval: 10.9-21.2). As many as 23.6% of the registered patients had at least 1 severe associated disease (excluding urological abnormalities). A steep decline in renal survival occurred during puberty and early postpuberty, leading almost 70% of the patients to end-stage renal failure by the age of 20 years. When the population was subdivided on the basis of Ccr at the time of registration, the probability of kidney survival at 20 years of age was significantly different, being 63% in patients with mild renal failure (Ccr 51-75 mL/min), 30% in those with moderate renal failure (Ccr 25-50 mL/min), and 3% in those with severe renal failure (Ccr <25 mL/min). The incidence of renal replacement therapy was 7.3/y/100 patients, and the case-fatality rate on conservative treatment was 1.41%. CONCLUSIONS: This study provides important and recent epidemiologic information concerning CRF in children and adolescents: a mean annual incidence of 12.1 new patients per million of the age-related population with a very high proportion (57.6%) of hypodysplastic renal diseases with or without urinary tract malformation. By the age of 20 years, the cumulative probability of end-stage renal disease in the population as a whole was 68%. The probability of kidney survival sharply declined during puberty and early postpuberty. This is the first prospective evaluation of the incidence and outcome of CRF in children, including those with mild and moderate renal impairment.

Adolescent↗

PubMed2003

Shiga toxin-producing Escherichia coli infections associated with hemolytic uremic syndrome, Italy, 1988-2000.

The mean annual incidence of hemolytic uremic syndrome in persons </=15 years of age in Italy from 1988 to 2000 was 0.28 per 100,000 population. Laboratory investigations showed that Shiga toxin-producing Escherichia coli (STEC) infection occurred in 73.1% of patients. STEC O157 was the most common serotype, but a considerable number of cases were from infections by non-O157 STEC.

Adolescent↗

PubMed2002

Role of non-polio enterovirus infection in pediatric hemolytic uremic syndrome.

Verocytotoxin-producing Escherichia coli(VTEC) infections cause most cases of hemolytic uremic syndrome (HUS); 10-30% of patients, however, are negative for VTEC infection. The etiology of HUS in VTEC-negative cases remains poorly understood. Before the association between VTEC infection and HUS was recognized, sporadic cases of HUS with enterovirus infection were reported in the literature. Since May 1988, most cases of HUS in Italy have been reported to the Italian surveillance system, and in 73% of these, evidence of VTEC infection was demonstrated. The aim of this study was to determine whether the frequency of enteroviral infections was different in the acute phase of VTEC-positive and VTEC-negative HUS. Eighty-nine patients were investigated for enteroviral infection, of whom 58 were VTEC positive and 31 VTEC negative. Two serum samples from each patient were examined for seroconversion to enterovirus (coxsackie, echovirus, and picornavirus) by a complement fixation test. Serological evidence of acute infection with non-polio enterovirus was found in 33 patients (37%) [20/58 (34.5%) VTEC positive and 13/31 (41.9%) VTEC negative]. There was no statistically significant difference between the two groups. These results demonstrate that there are no significant differences for enteroviral infection in VTEC-positive and VTEC-negative patients and, therefore, enteroviral infections should not be considered a cause of HUS in VTEC-negative children.

Child↗

PubMed2002

Conversion from cyclosporine to tacrolimus in pediatric kidney transplant recipients.

In pediatric kidney transplant recipients, tacrolimus has been proposed either for primary immunosuppression or as a rescue agent for refractory acute rejection, chronic rejection, and cyclosporine toxicity. This paper describes our experience with tacrolimus conversion from cyclosporine-based therapy in six selected cases: four due to refractory acute rejections unresponsive to conventional therapy, one to chronic graft rejection, and one to cyclosporine-related hypertrichosis. A "simple-switch" conversion was used without any overlap, starting with a dose of 0.2 mg/kg per day. The time to conversion varied from 10 to 730 days after the transplant. In the patients with acute rejection, the median time to reversal after tacrolimus conversion was 12 days. The symptoms of the patient with cyclosporine toxicity completely resolved without any loss of allograft function. The patient with chronic rejection maintained stable renal function for more than 1 year after conversion. A new onset of post-transplant diabetes mellitus and dose-related nephrotoxicity were recorded as adverse events. In conclusion, our experience suggests that tacrolimus can play an important role in the salvage treatment of pediatric kidney transplantations with deteriorating graft function due to acute rejection refractory to standard therapy. Tacrolimus conversion also provides excellent results in the presence of cyclosporine toxicity.

Adolescent↗

PubMed2002

Identification of fifteen novel mutations in the SLC12A3 gene encoding the Na-Cl Co-transporter in Italian patients with Gitelman syndrome.

The SLC12A3 gene encodes the thiazide-sensitive Na-Cl co-transporter (NCCT) expressed in the apical membrane of the distal convoluted tubule of the kidney. Inactivating mutations of this gene are responsible for Gitelman syndrome (GS), a disorder inherited as an autosomal recessive trait. We searched for SLC12A3 gene mutations in 21 Italian patients with the clinical and biochemical features of GS (hypokalemia, hypomagnesemia, metabolic alkalosis, hypocalciuria, and the absence of nephrocalcinosis). All coding regions with their intron-exon boundaries were analyzed using PCR and SSCP techniques followed by sequencing analysis. We identified 21 different mutations evenly distributed throughout the gene without any mutation hot-spot. Fifteen are novel variants, including 12 missense mutations, one deletion, one deletion-insertion and one splice site mutation: R158Q, T163M, W172R, G316V, G374V, G463E, A464T, S615W, V677M, R852S, R958G, C985Y, 2114-2120delACCAAGT, 2144-2158delGCCTTCTACTCGGATinsTG, and 531-2A>G.

Alkalosis↗

PubMed2002

Electrocardiogram with prolonged QT interval in Gitelman disease.

BACKGROUND: Potassium and magnesium deficiency prolong the QT interval on a standard electrocardiogram and predispose the patient to dangerous cardiac arrhythmias. No information is available on QT interval in patients diagnosed with Gitelman disease. METHODS: The QT interval was assessed on lead II in 27 patients with biochemically and genetically defined Gitelman disease, who had discontinued medical treatment for at least four weeks. They included 15 female and 12 male subjects, aged 6.7 to 40 years old, median 20 years old. The corrected QT interval was calculated from the measured QT interval and heart rate using the Bazett formula. RESULTS: The corrected QT interval was normal (between 391 and 433 msec) in 16 and prolonged in the remaining 11 patients (between 444 and 504 msec). Patients with prolonged and patients with normal QT interval did not significantly differ with respect to female to male ratio, plasma potassium, plasma total magnesium, and plasma ionized calcium. Plasma sodium and chloride values were slightly but significantly lower and bicarbonate levels higher in patients with a prolonged than in those with a normal QT interval. CONCLUSIONS: The corrected QT interval is often pathologically prolonged in patients with Gitelman disease, suggesting that there is an increased risk for development of dangerous arrhythmias. Further investigations are required in patients with a prolonged QT interval to assess the true hazard of dangerous arrhythmias.

Adolescent↗

PubMed2002

A case study: telemedicine technology and peritoneal dialysis in children.

We investigated the feasibility and effectiveness of a telemedicine system for monitoring pediatric patients undergoing automated peritoneal dialysis (APD) at home. The system uses modem-based communication between the patient's cycler and a computer in the dialysis unit, which allows data transmission and storage, and live patient-physician interaction by ISDN lines, modem, microphone with stereo speakers, and digital cameras for private video-conferencing and image capture. Two children aged 10 and 12 years, who live 1500 and 40 km from the dialysis unit, respectively, have been using the system for 7 months. All of the APD treatment data were stored and examined; 122 televisits were performed. The APD data show that both patients have complied with their dialysis prescription. The telemedicine system broadens patient/physician interchange and increases the quality of care and the life of children on peritoneal dialysis.

Child↗

PubMedDate not supplied

A novel objective nutritional score for children on chronic peritoneal dialysis.

OBJECTIVES: To establish a novel nutritional score based on a series of objective parameters capable of detecting protein-calorie malnutrition in children being treated with chronic peritoneal dialysis (CPD), to test the score in a healthy pediatric population, and to apply it to children on CPD to evaluate their nutritional status. STUDY POPULATION: 264 healthy school children (mean age 8.69 +/- 3.26 years, range 3.05-14.98 years) and 29 patients treated with CPD for 1.75 +/- 1.02 years (mean age 10.54 +/- 6.28 years, range 2.8-15.24 years). METHODS: Nutritional status was evaluated by means of three sets of measurements: anthropometric (A1 and A2) and bioimpedance analysis (BIA) measurements. Anthropometry included two sets of measures: set A1 consisted of height (H), weight (W), and body mass index (BMI); set A2 consisted of midarm muscle circumference (MAMC), arm muscle area (AMA), and arm fat area (AFA). The BIA measurements included reactance, phase angle, and distance. All parameters are expressed as standard deviation scores (SDS).Tanner's, Rolland-Cachera's, and Frisancho's data were used as references for H, W, BMI, MAMC, AMA, and AFA; personal data obtained from 551 healthy boys and girls were used for the BIA indices. The nine anthropometry and BIA parameters were given scores of 1 to 5: 5 = > 0 SDS, 4 = < or = 0 and > -1 SDS, 3 = < or = -1 and > -2 SDS, 2 = <-2 and > -3 SDS, and 1 = < or = -3 SDS. Average scores were established for each of A1, A2, and BIA, and then summed to obtain the anthropometry-BIA nutrition (ABN) score. To establish the cutoff value between normal nutritional status and malnutrition, the method was first applied to the 264 healthy children; distribution percentiles were calculated for each area score and the ABN score. The ABN score corresponding to the 3rd percentile was considered the limit of normality and then applied three times to the 29 children on CPD, for a total of 87 nutritional assessments. RESULTS: The score corresponding to the 3rd percentile in the population of healthy children was 10.33. Among the CPD-treated children, 41.4% of the ABN scores were higher than 10.33 (indicating a state of normal nutrition) and 58.6% were lower (indicating various degrees of malnutrition). Severe malnutrition was found in only 1.1% of the cases. The values of all nine A1, A2, and BIA parameters, as well as serum albumin levels, were significantly higher in patients with an ABN score > 10.33 than in those with a score < 10.33. CONCLUSION: The ABN score is a simple and objective method of assessing, in clinical practice, the nutritional status of children on CPD.

Adolescent↗

PubMedDate not supplied

Chronic peritoneal dialysis catheters in children: a fifteen-year experience of the Italian Registry of Pediatric Chronic Peritoneal Dialysis.

OBJECTIVE: To analyze data on 503 chronic peritoneal dialysis (CPD) catheters implanted between 1986 and 2000 in pediatric patients enrolled in the Italian Registry of Pediatric Chronic Peritoneal Dialysis (the Registry), comparing three different time periods: 1986-1990, 1991-1995, and 1996-2000. DESIGN: Retrospective study. SETTING: 23 dialysis centers participating in the Registry. METHODS: Data were collected from questionnaires filled in every year. The information for each peritoneal catheter included type, site and technique of insertion, exit-site orientation, exit-site care, complications, survival, and reason for removal. PATIENTS: 503 catheters were implanted in 363 pediatric patients aged younger than 15 years at the start of CPD: 97 catheters in patients under 2 years of age, 67 in patients aged 2-5 years, and 339 in patients over 5 years of age. Mean patient age at onset of CPD was 8.0 +/- 5.1 years. All catheters were surgically implanted and omentectomy was performed in 82.4% of cases. The catheters used were Tenckhoff [468 (93.0%): 443 double cuff, 25 single cuff] and double-cuffed Valli [35 (7.0%)]. The entry site was in the midline in 153 cases (30.4%) and paramedian in 350 (69.6%). RESULTS: During 9048 dialysis-months we observed 451 catheter-related complications, yielding an incidence of 1 episode/20.1 CPD-months: 330 catheter infections (exit-site and/or tunnel infections), 26 leakages, 26 dislocations, 24 obstructions, 22 cuff extrusions, 6 hemoperitoneums, 17 others. 171 catheters were removed due to catheter-related causes; exit-site and/or tunnel infections were the main cause for removal (75.4%), followed by obstruction, dislocation, outer-cuff extrusion, and leakage. Younger children (< 2 years) had a higher risk of infectious causes of catheter removal compared to children aged 2-5 years (p = 0.004) and over 5 years of age (p = 0.002). During the 15-year observation period, a significant reduction in the incidence of leakage was observed and risk of leakage was lower in catheters with paramedian entry site compared to catheters with midline entry site. Removal and replacement of peritoneal catheters during the same surgical operation was performed in 76.3% of catheter removals. Catheter survival rate was 78.1% at 12 months, 58.5% at 24 months, 43.8% at 36 months, and 34.6% at 48 months. No difference in catheter survival was observed in younger children (< 2 years) compared with the two other age groups: < 2 years versus 2-5 years hazard ratio 0.7, 95% confidence interval (95%CI) 0.4-1.2; < 2 years versus > 5 years hazard ratio 0.8, 95%CI 0.5-1.1. CONCLUSIONS: In this survey, we observed better catheter survival in comparison with data reported by the Registry in 1998. Catheter survival improved especially in younger children (< 2 years), a group that previously had a decreased catheter survival rate compared to older age groups. In addition to the progressive increase in experience acquired by dialysis centers, this upward trend may also be related to greater use of double-cuffed catheters, with paramedian exit site, and a higher frequency of omentectomy.

Adolescent↗