Claudio Spisni

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Anderson-Fabry disease (E C 3.2.1.22, MIM 301500) is an X linked lysosomal storage disorder caused by a deficiency of the enzyme α-galactosidase A (GLA). 2 The onset of the disease and the severity of clinical manifestations depend principally on residual GLA enzymatic activity. Fabry disease can be classified into two clinical phenotypes: the classical(More)
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 7.0 +/- 4.0 mg%) on conservative diet. The(More)
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(More)
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(More)
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(More)
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(More)