Fabry Disease p.M290I Mutation is Related to Organ Involvement: A Case Report.

Fabry disease (FD) is an X-linked hereditary disease. It results from mutations in the GLA gene, leading to deficient activity of the enzyme alpha-galactosidase A (α-Gal A) and progressive accumulation of undegraded glycosphingolipids in cell lysosomes. Enzyme replacement therapy (ERT) can improve the natural course of this disease, but an early diagnosis is crucial for a successful treatment.

Fungal peritonitis in peritoneal dialysis patients: Is previous antibiotic therapy an essential condition?

The aim of this study was to analyse the clinical and microbiological features of fungal peritonitis, in chronic peritoneal dialysis patients, focusing on non-traditional risk factors for this feared complication. From 2001 to 2004, five episodes of fungal peritonitis were diagnosed in five different patients, accounting for 4.5% of all peritonitis cases seen during this period.

[Rhabdomyolysis].

Rhabdomyolysis is a common entity that often has a multifactorial etiology. It usually affects healthy individuals, following trauma, excessive physical activity, convulsive crisis, alcohol and other drugs consumption or infections. Accumulation of intracellular calcium, activation of proteases and lipases, production of free radicals and the infiltration by inflammatory cells, are some of the mechanisms responsible for muscular necrosis.