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.

Celiac Disease as a Rare Cause of Membranous Nephropathy: A Case Report.

Membranous nephropathy is the most common cause of nephrotic syndrome in adults. A non-negligible number of cases are associated with systemic conditions. We report a case of a 50-year-old man who presented with nephrotic syndrome six months after being diagnosed with celiac disease.

Novel GLA T194A variant causes Fabry disease.

Fabry disease (FD) is an X-linked, systemic lysosomal deposition disease caused by alpha-galactosidase A (AGAL) enzyme deficiency deriving out of changes on the gene. Though several mutations have been described, one must consider that even a specific mutation may present with variable clinical expression within the same family. Typically described as a disease that affects hemizygous men with no residual AGAL activity, we describe a novel FD mutation (first case of T194A variant worldwide) in a 49-year-old woman presenting with a classic phenotype of FD.

Sexual dysfunction in men and women on peritoneal dialysis: Differential link with metabolic factors and quality of life perception.

Background: Sexual function, psychosocial status and quality of life (QoL) are important dimensions, often underestimated, in dialysis treatment schedules.

Objectives: The aim of this study was to evaluate the prevalence of sexual dysfunction and its associations, among peritoneal dialysis (PD) patients.

Methods: The Index of Female Sexual Function (IFSF), the International Index of Erectile Function (IIEF), the Hospital Anxiety and Depression Scale (HADS) and the Quality of Life EQ5D questionnaires were applied to a prevalent PD population of 57 enrolled patients.