Rare Diseases: don't stop the research

Project location: ITALY
Project start date: January 2001 - Project end date: January 2002
Project number: 2001-15
Beneficiary: ARMR

Fellowship for a research study on cardiovascular risks in patients with chronic renal diseases

Description

The Nando Peretti Foundation is financing the Association for the Research on Rare Diseases (ARMR) with one year fellowship carried on by Dott. Simona Bruno in the Clinic Reseach Center of Rare Diseases "Aldo e Cele Daccò". The research aims to study the cardiovascular risks in patients with chronic renal diseases.

Cardiovascular complications are responsible for more than a half of deaths of patients with chronic failure on dialysis and the cardiovascular mortality is increased more than tenfold in these patients compared to the general population. Available evidence suggests that such a high risk originates in the predialysis phase and is associated with left ventricular hypertrophy. Otherwise, there are no cohort study investigating the link between renal disease progression and changes both in heart morphology and function, and in atherosclerosis process.

40 hypertensive patients on ACE inhibitor with chronic renal failure and persistent protein excretion of more than 1g/24h, will be evaluated by heart and carotid ultrasonography, and renal hemodynamic studies at baseline and six months later, to look for the link between serial changes in heart and structural changes in the arterial wall to changes in renal function.

The project is aimed to study the evolution of cardiovascular disease in chronic proteinuric nephropathies, and to identify predictors of cardiovascular complications and atherosclerosis in nephropathic patients.


Results

Cardiovascular disease (CVD) is the major cause of death in patients with end-stage renal disease (ESRD), infact the life span of patients with ESRD is reduced, and CVD accounts for approximately half the deaths among adults undergoing regular dialysis. In the general population, CVD morbidity and mortality have declined over the past three decades through risk factors identification and reduction, and more effective treatment of coronary artery disease, while, as compared to the general population, there are relatively few epidemiological studies of the determinants of CVD disease in patients with chronic renal failure.

From December 2001 to September 2002 Dr. Simona Bruno has evaluated, at baseline, thirty-six patients with chronic renal failure and persistent protein excretion, and twenty-eight at sixth month.
In the general population, cardiac disease is usually caused by atheromatous lesions in the coronary arteries while, among patients with chronic renal insufficiency, the chief cardiac abnormality is left ventricular hypertrophy (LVH), that Dr. Bruno has found in sixteen patients. LVH is an independent factor related to the overall mortality in uremic patients, and it is often accompanied by other circulatory abnormalities: ventricular dilatation and arterial (and especially aortic) stiffening.
Physiopathologically, LVH is a complex phenomenon related to volume and pressure overload, characterized by two principal echocardiographic alterations: excentric hypertrophy (increased internal dimensions of the cardiac cavities), and concentric hypertrophy (increased LV wall thickness, due principally to a thickening of the interventricular septum).
Cardiac diastolic function becomes abnormal very early in cardiac diseases, and almost always before contractile dysfunction is apparent. This dysfunction, that Dr. Bruno has found in 28 patients, manifests itself as the inability of the heart to fill to a normal end-diastolic volume with exercise and hence cardiac output.

Furthermore, the researcher is evaluating the relationship between the evolution of renal function and the atherosclerosis process in patients with chronic renal failure. Carotid artery intima-media thickness (IMT), measured by Duplex ultrasonography (US), is an index of subclinical atherosclerotic lesions used to evaluate the time-dependent alterations of the artery wall. This method, useful in detecting and characterizing atherosclerosis process, has revealed the presence of carotid arteries intima-media over-thichness and/or plaques in twelve patients.

In summary, the burden of cardiovascular disease is large in chronic renal insufficiency and risk factors include older age, diabetes mellitus, hypertension, anemia, volume overload, hyperparathyroidism, dyslipidemia, and probably uremia itself.
Preliminary results show that cardiovascular disease progression is associated with renal disease progression, and this correlation is stronger in patients with higher arterial blood pressure.

 


Press Review

Un premio ai giovani ricercatori

Consegnate in Prefettura le Borse di Studio per la lotta alle malattie rare
L'iniziativa dell'Associazione ARMR per aiutare lo sviluppo di progetti innovativi nel Centro "Aldo e Cele Daccò" di Ranica
Da: L'Eco di Bergamo, 21 Novembre 2001
di Heidi Busetti

Un premio alla ricerca. Sette Borse di studio e quattro premi sono stati consegnati nei giorni scorsi ad undici studiosi, durante la cerimonia organizzata dall'Associazione per la Ricera sulle Malattie Rere nel Palazzo della Prefettura. L'Associazione - fondata nel 1996 - ha proprio lo scopo di promuovere la conoscenza delle cause e la ricerca di terapie per la cura delle malattie rare. Una ricerca che si avvale anche di giovani studiosi e per questo tra gli obiettivi dell'Associazione c'è l'aiuto finanziario per la formazione di giovani ricercatori sia italiani che stranieri che collaborino a progetti di ricerca da effettuare nel Centro di Ricerca per le Malattie Rare "Aldo e Cele Daccò". Alla cerimonia - seguita da una cena - sono intervenuti il Prefetto Andrea De Martino; il Questore Salvatore Presenti; la Presidentessa dell'Associazione Daniela Guadalupi gennaro; il Vice-Sindaco Franco Tentorio; il Comandante dell'Accademia della Guardia di Finanza, Giuseppe Quaranta; il Comandante della Guardia di Finanza, Riccardo Piccinni e ancora Vincenzo Procacci, Comandante dei Carabinieri; Mariano Cenniccola, Comandante interregionale dei Carabinieri; Don Antonio Mazzi e Silvio Garattini, direttore dell'Istituto Farmacologico Mario Negri di Milano. "Questa è la sera delle ricerche - ha detto il Prefetto - un grazie dunque a quanti nella loro vita, giorno dopo giorno, animano il sistema della ricerca italiana, e questo sia a livello scientifico che a livello organizzativo e sociale. Sicuramente uno degli obiettivi più importanti della ricerca è quello di rendere migliore la vita nei diversi campi del sapere umano". Le sette Borse di Studio sono state divise in due categorie: "Borse Senior" (18 milioni ciascuna) e "Borse Junior" (12 milioni). A riceverle sono state, per la prima categoria, Regiane Aparecida Cabinato, Luca Antiga e Simona Bruno. Per la catergoria "Junior" sono stati premiati Elena Binda, Simona Brioschi, Francesco Marconi e Silvia Contaretti. Le Borse di Studio sono state finanziate da diversi Enti, quali la Fondazione Nando Peretti, il Rotary Club Orbetello Costa d'Argento, La Bracco spa, e una Borsa intitolata a "Maria Teresa Conterno". I quattro premi dell'Associazione per la ricerca sulle Malattie Rare sono stati, invece, ricevuti da Diana Bracco per la sua figura di mecenate in campo artistico; Anna Naddeo Astori, per la sensibilità dimostrata nei confronti della società; Elsa Peretti, per la ricerca dell'arte del gioiello, e a Giuseppe Remussi, per la ricerca nell'ambito delle malattie renali e dei trapianti d'organo.

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