[A case of acute renal failure secondary to late-onset McArdle's disease]. / Un caso di insufficienza renale acuta secondaria a malattia di McArdle ad esordio tardivo.

INTRODUCTION: Mc Ardles disease, also known as Type V glycogen storage disease, is a rare deficiency of the enzyme glycogen phosphorylase in muscle cells, inherited as an autosomal recessive trait. In the absence of this enzyme, muscles cannot break down glycogen during exercise, so in patients affected by McArdles disease even moderate physical activity produces cramps, pain and fatigue. Anaerobic activity leads to severe fixed contractures and rhabdomyolisis with myoglobinuria and raised serum creatine-kinase, which, in turn, can lead to acute renal failure. Disease onset is usually in early childhood, although diagnosis is often not made until the second or third decade. CASE REPORT: We present the case of a 68-year-old man who presented to the Emergency Room with fatigue, vertigo, diarrhea and oliguria. The patient underwent five daily hemodialysis sessions, diuresis reappeared and there was progressive recovery of renal function. The patient described episodes of fatigue and muscular pain occurring since childhood: the positive personal history, together with persistently raised CPK levels in the absence of any infective or toxic cause of myositis, led us to suspect the presence of this rare metabolic disease, which was subsequently confirmed by muscle biopsy. CONCLUSION: To date, there is no specific treatment for type V glycogenosis, although a diet rich in protein and saccarose, vitamin B6 supplementation and creatine administration are generally recommended. Moderate physical activity can help manage symptoms by improving exercise tolerance and blood supply to the muscles, ensuring provision of glucose and free fatty acids for the muscle fibers.

A case-by-case protocol of membranous nephropathy treatment with endovenous infusion of high doses of human immunoglobulins.

The treatment of membranous nephropathy is a highly controversial issue. As some patients may have spontaneous remission, in about 50% of cases the risk of treating patients with drugs that may have severe side effects is higher than the potential benefit of arresting disease progression. Some authors therefore propose exclusively symptomatic treatment; other authors use steroids and immunosuppressive drugs, alone or in association with high risk of adverse effects and often uncertain benefits. The intravenous administration of high doses of human immunoglobulins (IVIg) has been also extended to a growing number of kidney diseases including membranous nephropathy. The mechanisms through which IVIg carry out their therapeutic effect are still unclear. The present study is a retrospective and uncontrolled trial, the aim of which was firstly to verify if some patients could respond to extremely short treatment protocols, stopped when they appear to have a stable remission, thereby avoiding expensive continuation of treatment. Secondly, we aimed to verify if some patients, judged as nonresponders to a classical protocol of IVIg therapy, could respond to a more prolonged treatment.

[Diverticular disease of the colon in peritoneal dialysis]. / La malattia diverticolare del colon nella dialisi peritoneale.

Colon diverticular disease is a very common pathology in western countries and represents a risk factor for septic-type complications, especially in peritoneal dialysis patients. We examined both diagnostic procedure and therapeutics options, either pharmacological or surgical. Ultrasonography, which is useful for the diagnosis of diverticulosis and diverticular disease, has been supported in the last few years by new imaging techniques, such as NMR and CT, that also find applications in the treatment of diverticulitis complications like peritoneal abscesses. Our emphasis is on the therapeutic perspective, either dietetic - based on the use of a fibre-rich diet and the infusion of liquids by intravenous injection - or surgical, such as the Hartmann procedure, single anastomosis with stomia conservation and laparoscopic and endoscopic treatment. These therapeutic approaches have reduced both morbidity and mortality rate and have emphasized how the reduction of surgical stress on the mesothelium promotes the recovery of the functional integrity and, consequently, faster resumption of peritoneal dialysis. In conclusion, diverticulosis alone is not a contraindication for peritoneal dialysis, but constitutes a risk factor for the continuation of this alternative treatment.