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Updated: Jan 19, 2026

Direct Drug Delivery to Kidney via the Renal Artery
Published on: April 17, 2021
Renal Pathological Findings in Action Myoclonus-Renal Failure Syndrome
Geoffroy Desbuissons1,2, Isabelle Brocheriou3, Guy Touchard4
1Nephrology Department, Pitié-Salpêtrière University Hospital and Sorbonne University, Paris, France, geoffroy.desbuissons@aphp.fr.
Abstract:
Action myoclonus - renal failure is a rare syndrome associated with a progressive myoclonic epilepsy and renal impairment that may lead to end-stage renal failure. It is an autosomal recessive genetic disease related to a loss-of-function mutation in SCARB2, which encodes for lysosomal integral membrane protein type 2. Renal involvement is poorly described, and we report here the first electron microscopy renal analysis after having performed a kidney biopsy in a 31-year-old Gambian patient.
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