No evidence of Fabry disease in a patient with the new p.Met70Val GLA gene variant.

Background: Fabry disease (FD) is a rare X-linked lysosomal storage disorder caused by variants in GLA gene leading to deficient α-galactosidase A enzyme activity. This deficiency leads to the accumulation of glycosphingolipids, particularly globotriaosylceramide (Gb3), in various tissues and organs, which can result in life-threatening complications. The clinical presentation of the disease can vary from the "classic" phenotype with pediatric onset and multi-organ involvement to the "later-onset" phenotype, which presents with predominantly cardiac symptoms.

[FSGS collapsing variant during anabolic steroid abuse: Case Report].

Anabolic Androgenic Steroids (AAS) is an hormone family whose use has considerably increased among body-builders during the last decades. The AAS abuse, especially associated with other drugs or nutritional supplements and protein loads, may cause a variety of pathologies to several organs with a mechanism related to dosage, timing and substance. The kidney is the main metabolizer of these drugs and it can be acutely or chronically damaged with ESKD.

Different renal phenotypes in related adult males with Fabry disease with the same classic genotype.

Background: Fabry disease related patients with classical mutation usually exhibit similar severe phenotype especially concerning renal manifestation.

Methods: A dry blood spot screening (DBS) and the DNA analysis has been performed in a 48-year-old man (Patient 1) because of paresthesia.

Results: The DBS revealed absent leukocyte -Gal A enzyme activity while DNA analysis identified the I354K mutation.