The Identification of a Novel Pathogenic Variant of the Gene Associated with a Classic Phenotype of Anderson-Fabry Disease: A Clinical and Molecular Study.

Anderson-Fabry (or Fabry) disease is a rare lysosomal storage disorder caused by a functional deficiency of the enzyme alpha-galactosidase A. The partial or total defect of this lysosomal enzyme, which is caused by variants in the gene, leads to the accumulation of glycosphingolipids, mainly globotriaosylceramide in the lysosomes of different cell types. The clinical presentation of Fabry disease is multisystemic and can vary depending on the specific genetic variants associated with the disease.

[Extra-hepatic manifestations associated with Hepatitis and virus infection].

Hepatitis E virus (HEV) is a significant public health problem that affects almost 20 million individuals annually and cause acute liver injury in 3,5 million. Hepatitis E virus can cause acute, fulminant and chronic hepatitis and has been associated with a range of extrahepatic manifestation. The spectrum of these manifestation is still emerging.

[Therapy of glucocorticoid induced osteoporosis].

Glucocorticoid-induced osteoporosis (GIO) is a major cause of secondary osteoporosis that starts early after the beginning of therapy even for low drug doses. Glucocorticoids are used for the treatment of immunologic nephropathies and in the setting of kidney transplant. In clinical practice, a number of algorithms are available; they allow us to estimate the long-term risk of major osteoporotic fracture; but none of them is specific for GIO.

[Severe neutropenia during treatment with amoxicillin/clavulanic acid in a patient on regular hemodialysis treatment].

Beta-lactams are one of the most widely used antibiotics in respiratory diseases, both in adults and in the pediatric population. Their widespread use is also linked to the elevated tolerability and low risk of side effects that are generally not severe. We present here the case of a patient on regular haemodialysis pertaining to our Center who, after a seven-day treatment period with amoxicillin/clavulanic acid antibiotic therapy (medication originator), developed a framework of severe neutropenia (neutrophils till 10/mmc) resulting in hospitalization and the beginning of a specific diagnostic and therapeutic work-up.

[Acute hepatotoxicity from intravenous amiodarone in a patient on hemodialysis].

Amiodarone is a class III antiarrhythmic drug used to treat several tachyarrhythmias. Although toxicity by long-term oral therapy is known, it is rare to observe the acute toxicity correlated to intravenous use. We report an unusual case of acute hepatotoxicity after the initiation of intravenous amiodarone for atrial fibrillation in a patient on regular hemodialysis.