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Renal involvement in Refsum's disease.

R C Pabico, B J Gruebel, B A McKenna

The American Journal of Medicine

|May 1, 1981

Summary

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Plasmapheresis effectively improved kidney function in a Refsum's disease patient by reducing phytanic acid levels. This treatment led to better renal hemodynamics and tubular functions, alongside overall clinical gains.

Area of Science:

Nephrology
Metabolic Disorders
Biochemistry

Background:

Refsum's disease is a rare genetic disorder characterized by the accumulation of phytanic acid.
Phytanic acid accumulation can lead to various systemic complications, including renal impairment.
Understanding the specific renal manifestations and the impact of phytanic acid on kidney function is crucial.

Observation:

A 39-year-old female patient with Refsum's disease presented with lipiduria, glycosuria, cylindruria, proteinuria, and azotemia.
Renal biopsy revealed significant vacuolization and mitochondrial abnormalities in tubular epithelial cells, glomerular visceral epithelial cells, and mesangial sclerosis.
Initial assessment indicated impaired renal hemodynamic and tubular functions.

Findings:

Related Experiment Videos

Twice-weekly plasmapheresis over 12 weeks successfully reduced plasma phytanic acid levels.

Following plasmapheresis, the patient exhibited significant improvements in renal hemodynamic and tubular functions.

Histopathological changes in the kidney showed signs of recovery or stabilization.

Implications:

Plasmapheresis is a viable therapeutic option for managing renal complications in Refsum's disease.
Lowering plasma phytanic acid levels can reverse or ameliorate kidney damage.
This study highlights the direct link between phytanic acid accumulation and nephropathy in Refsum's disease.