[Fabry disease in Italy: first epidemiologic and collaborative study].

The authors sought to define the prevalence of Fabry disease and to establish the incidence and its natural history in Italy. The aim of this study was to point out the first clinical signs and symptoms to perform an early diagnosis and hence to start a specific therapeutic treatment. Fabry disease is an inborn error of metabolism caused by the deficiency of the lysosomal enzyme alpha-galactosidase A.

[Comparison of mammographic and industrial films in dialysis patients].

Purpose: To optimize the technique for radiographic studies of bone and joint damage in renal osteodystrophy.

Material And Methods: Sixty-four patients with chronic renal failure on dialysis for 0-10 years, were divided into two homogeneous groups and submitted to two different radiographic examinations of the nondominant hand. Group A patients were examined with a conventional radiological unit and an industrial film and a conventional radiological unit with a mammographic film with a dedicated screen, while group B patients with a mammographic with an industrial film and a conventional radiologic unit with a mammographic film with a dedicated screen.

Low concentrations of glucose degradation products in peritoneal dialysis fluids and their impact on biocompatibility parameters: prospective cross-over study with a three-compartment bag.

The side effects of glucose degradation products (GDPs) in conventional peritoneal dialysis (PD) fluids are well described. Using the three-compartment bag concept--that is, in situ preparation of concentrated glucose solution into a standard ionic solution--a GDP-free solution can be processed. To investigate the possible impact of this product on biological and clinical parameters, we carried out a prospective cross-over study with 31 patients, comparing the short-term effects of conventional PD and GDP-free PD solutions.

Serum epidemiological trial on the prevalence of the anti-cytomegalovirus antibodies in patients under substitutive treatment with hemodialysis and CAPD.

The detection of IgG and IgM anti-cytomegalovirus is very important when movements of serum transaminases are noted in absence of positivity for virus of hepatitis in uremic patients on substitutive treatment; in our patients, we have noted a positivity of 67% for the IgG class. Cytomegalic infection must be taken into consideration for the high parenteral transmissibility in addition to the high grade of immunodepression of uremic patients.

Electrophysiological aspects of nervous conduction in uremia.

Some neurophysiological techniques have been employed in clinical nephrology to record abnormalities of nervous conduction in central and peripheral pathways. The electrical monitoring on the peripheral and central nervous systems has allowed the detection of uremic neural injury, the diagnosis of specific electrophysiological abnormalities, the evaluation of various treatments employed and the identification of those abnormalities that uremia can induce. A group of 156 subjects subdivided into four groups were examined: 100 healthy subjects (64 M, 36 F); 56 patients (21 glomerulonephritis, 14 pyelonephritis, 5 nephrolithiasis, 5 polycystic kidney, 4 nephroangiosclerosis, 7 undetermined) with chronic renal failure treated with a conventional low nitrogen diet (CLND, 0.

The brainstem auditory evoked responses in Alport's syndrome.

Alport's syndrome is a "hereditary nephritis" associated with structural defects of basement membranes in kidneys, ears and eyes, with variable clinical expression. As the acoustic abnormalities are often subclinical, we studied the brainstem auditory evoked responses (ABR) and tonal audiometry in 12 patients (7 males, 5 females, mean age 32.50 +/- 16.

Evoked potentials in uremia: basal and follow-up data.

Various EPs have been employed to disclose even early-stage central and peripheral nervous system damage in uremia. This approach also gives the possibility to follow up alterations of many sensory functions during the sequential stages of uremia. Fifty-three subjects (35 male and 18 female, mean age 42.

Intraocular pressure (IOP) changes induced by regular dialysis treatment (RDT).

It has been long known that uremia and RDT could alter the optical fibers of the Central Nervous System: we also previously demonstrated the persistence of a delayed P100 wave evoked by Visual Potentials (VEPs) in RDT patients. Our present study evaluates changes in IOP during RDT and possible correlations between electrophysiological and tonometrical modifications. In twenty patients undergoing RDT (12 hrs/weekly, mean age 42.

Nucleotide deficit and functional platelet alterations in patients on regular dialysis treatment (RDT).

In RDT patients hemocoagulative changes are repeatedly found; of these the most important are platelets' functional defects. Biochemical and biophysical modifications responsible for this pathology have not been completely clarified. In 20 non-thrombocytopenic patients, dialyzed 3 times weekly for over 1 year, we evaluated, using standard methodology, platelet adhesivity and aggregation induced by collagen and ADP at varying dosages.

New electrophysiological assessments for the early diagnosis of encephalopathy and peripheral neuropathy in chronic uraemia.

The clinical manifestations of neuropathy in chronic uraemia are late in occurring. However, at an early stage it is possible to detect damage to either the central or peripheral nervous system by means of modern electrophysiological investigation methods. We examined 29 patients with CRF (plasma creatinine 7.

[Preliminary experience in extracorporeal renal surgery and autotransplants].

Successful management of stenosis of a polar branch of the renal artery by means of autotransplantation is reported. The main indications for this technique are described: arteriosclerosis and injury to the artery, aneurysm, various forms of ureteral injury, bilateral or unilateral renal tumour, coralliform intraparenchymal lithiasis, together, with the techniques for extracorporeal perfusion of the kidney and the mechanisms of the more commonly adopted conservation solutions.