Autoimmune polyglandular syndrome in a woman of 51 years.

INTRODUCTION: Autoimmune polyglandular syndromes (APS) are constellations of symptoms and signs of multiple glandular insufficiencies. We report a rare case of type III APS in a female patient. CASE REPORT: A 51-year-old woman was treated with radiotherapy because of thymus hyperplasia when she was two years old; she was diagnosed with celiac disease and autoimmune hypothyroidism at 41 years old and with sicca syndrome and myasthenia gravis seronegative a few years later. CONCLUSIONS: Our patient demonstrates a previous constellation of diseases of APS, which may be a random association but may also indicate a common immunological and genetic disturbance. The APS is an expression of a system impairment of immune tolerance to autoreactive clones, and this is necessary because the phenomena can become aggressive and expressed clinically. We suppose that the development of thymic hyperplasia or its radiotherapy in childhood may have compromise the patient's immune system.

Uricemia and homocysteinemia: nontraditional risk factors in the early stages of chronic kidney disease--preliminary data.

BACKGROUND: Patients with chronic kidney disease (CKD) show a risk of cardiovascular death, which is 10-100 times higher than that in the general population. This increase is not completely explained by the traditional cardiovascular risk factors. Hyperuricemia and hyperhomocysteinemia are highly prevalent in CKD. Patients suffering from these complications present accelerated atherosclerosis, determined mainly from the endothelial dysfunction that carries out a central role in the pathogenesis of cardiovascular diseases. AIM: The hypothesis was that brachial artery flow mediated dilation (FMD) and carotid intima-media thickness (cIMT) evaluation can be considered as early and systemic markers of atherosclerosis and that nontraditional risk factors, such as hyperhomocysteinemia and hyperuricemia, are associated with early endothelial dysfunction and vascular damage in patients suffering from first- and second-stage CKD. PATIENTS AND METHODS: The study comprised 50 patients, 10 for each CKD stage, and 15 age- and sex-matched healthy controls. We compared the traditional and nontraditional factors for cardiovascular diseases with alterations of vascular reactivity, such as cIMT, and brachial artery FMD, in patients affected by CKD with those in the control group. RESULTS: In our study, hyperuricemia was significantly and independently associated with brachial artery FMD reduction (p = 0.007), while hyperhomocysteinemia was significantly and independently associated with carotid intima-media thickening (p = 0.021) in patients at Stage I and II KDOQI (Kidney Disease Outcomes Quality Initiative). CONCLUSIONS: In our study, we found a progressive increase in the inflammatory indices and endothelial dysfunction at the early stages of CKD. Hyperuricemia and hyperhomocysteinemia were associated with IMT and FMD at Stage I-III KDOQI, and can be used as markers of subclinical atherosclerosis, especially in nephropathic patients with high cardiovascular risk.

Late-onset globoid cell leukodystrophy. Report on seven new patients.

During the past 12 years, ten cases of globoidcell leukodystrophy (GLD) have been followed up: seven of these patients were affected by the late infantile form. The authors point out the clinical aspects and the course of these patients and stress the high frequency of this form of GLD in Sicily.