[Fabry disease in Italy: first epidemiologic and collaborative study]. / Primo studio epidemiologico e collaborativo italiano sulla malattia di Fabry.

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. Fabry disease is a severe X-linked disorder presenting with a higher morbidity between the third and the fourth decade of life. Fabry disease may be confused with other diseases or completely misdiagnosed: its frequency is estimated worldwide to be 1:117000. In Italy, 65 patients have been identified by several specialized institutions; age, sex, onset of first clinical signs and symptoms were analyzed and reported. In conclusion, this is the first Italian collaborative study that allows to delineate and point out the clinical signs of Fabry disease to perform a correct and early diagnosis. Enzyme replacement therapy is now available and its early beginning can prevent renal and cardiac failure, improve the quality of life and life expectancy in these patients.

Continuous glucose monitoring in conditions other than diabetes.

BACKGROUND: The development of new systems for continuous glucose monitoring has recently increased the interest for their potential applications among physicians involved in diabetes care. One of the most common applications of such devices is the identification of hypoglycaemic events in insulin-treated diabetic patients (particularly during the night) and the evaluation of the full daily glucose excursions. METHODS: Among commercially available glucose sensors, the Glucoday system has been utilized for practical clinical application in the last two years. One of the most important features of this device is the accuracy in monitoring interstitial glucose values, specifically in the hypoglycaemic range. This feature is clinically relevant when applied in the clinical setting of patients with type 1 diabetes mellitus. The ability to monitor glucose continuously could be indeed a useful tool for the study of hypoglycaemic conditions other than diabetes. RESULTS: In patients with hyperinsulinaemic hypoglycaemia, recurrent episodes of asymptomatic hypoglycaemia are common, and in patients with glycogen storage diseases, avoidance of recurrent and prolonged hypoglycaemic episodes usually require frequent determinations by mean of home blood glucose monitoring. CONCLUSIONS: Experimental preliminary evidences suggest that this new technology could be applied in the clinical setting to help the physician to identify mainly nocturnal hypoglycaemic events, otherwise not revealed by traditional self blood-glucose monitoring, even in those patients who are not treated by conventional insulin therapy.

Long-term treatment of Barth syndrome with pantothenic acid: a retrospective study.

We report on three patients (two are brothers) with confirmed Barth syndrome treated with pantothenic acid. This treatment is still controversial and only one study has reported positive results to date. In our patients, long-term treatment has failed to reduce the number of infectious episodes and prevent dilated cardiomyopathy. Our cases show that this treatment is not as effective in Barth syndrome as was previously claimed.