Fabry Nephropathy: An Evidence-Based Narrative Review.

Area of Science:

• Nephrology
• Genetics
• Rare Diseases

Background:

• Fabry disease (FD) is an X-linked genetic disorder caused by GLA gene mutations.
• Enzyme deficiency leads to globotriaosylceramide (Gb3) accumulation in organs, notably the kidneys.
• Renal manifestations include proteinuria and declining glomerular filtration rate.

Purpose of the Study:

• To provide an updated overview of Fabry nephropathy.
• Focus on epidemiology, pathophysiology, diagnosis, and treatment options for FD-related kidney disease.

Main Methods:

• Literature review and synthesis of current knowledge on Fabry nephropathy.
• Analysis of diagnostic criteria and therapeutic strategies.

Main Results:

• Gb3 accumulation in renal cells drives kidney damage in FD.
• Diagnosis involves enzyme activity assays and GLA gene mutation identification.
• Enzyme replacement therapy and migalastat show potential in managing renal decline.

Conclusions:

• Fabry nephropathy requires timely diagnosis for effective management.
• Therapeutic interventions aim to stabilize or slow the progression of kidney disease.
• Emerging treatments offer new hope for patients with FD.