Foot process effacement with normal urinalysis in classic fabry disease

Area of Science:

• Nephrology
• Genetics
• Biochemistry

Background:

• Fabry disease is an X-linked disorder causing alpha-galactosidase A deficiency.
• Accumulation of glycosphingolipids, primarily globotriaosylceramide, leads to systemic tissue damage.
• Nephropathy is a major complication, often progressing to end-stage renal failure.

Purpose of the Study:

• To report a case of early podocyte injury in Fabry disease before proteinuria.
• To evaluate the efficacy of early enzyme replacement therapy (ERT) in this patient.
• To discuss the implications for the timing of ERT initiation.

Main Methods:

• Case report of a 13-year-old male with classic Fabry disease.
• Assessment of renal function and urinalysis.
• Administration of Agalsidase beta (1 mg/kg/dose) every other week.
• Monitoring of renal function for 14 months post-treatment.

Main Results:

• The patient presented with acroparesthesia and demonstrated foot process effacement and podocyte depletion despite normal urinalysis.
• Following 14 months of ERT, renal function remained normal.
• This represents the first reported case of subclinical podocyte injury in Fabry disease with only acroparesthesia.

Conclusions:

• Early detection and intervention with ERT, even before overt proteinuria, may be crucial for preserving renal function in Fabry disease.
• Podocyte injury can occur subclinically, emphasizing the need for careful monitoring and timely ERT initiation.
• The findings support initiating ERT before significant proteinuria develops to potentially halt progressive kidney damage.