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

Area of Science:

• Nephrology
• Genetics
• Endocrinology

Background:

• Anabolic Androgenic Steroids (AAS) use is prevalent in bodybuilding, often alongside supplements and high protein intake.
• AAS abuse can lead to various pathologies, particularly kidney damage and end-stage kidney disease (ESKD).
• Existing literature suggests a link between AAS abuse and Focal Segmental Glomerulosclerosis (FSGS), but it's not well-established.

Observation:

• A young bodybuilder developed FSGS collapsing variant with ESKD after prolonged AAS abuse and a hyperproteic diet.
• The patient's rapid and irreversible ESKD prompted genetic testing.
• Genetic analysis revealed an ACTN4 gene mutation, a known cause of hereditary FSGS.

Findings:

• The case highlights a complex interplay of factors leading to kidney disease.
• The ACTN4 gene mutation predisposes individuals to FSGS.
• The mutant ACTN4 protein compromises podocyte cytoskeleton integrity, increasing vulnerability.

Implications:

• Environmental factors, such as AAS abuse, can unmask or trigger FSGS in genetically susceptible individuals.
• This finding deepens the understanding of FSGS pathogenesis, particularly in the context of substance abuse.
• Highlights the importance of considering genetic predisposition alongside environmental triggers in complex kidney diseases.