When the kidneys speak for the brain: a nephrological presentation of a rare neurological disorder
Abir Boussetta1,2,3, Tahar Gargah4,5,6
1Pediatric Nephrology Department, Charles Nicolle Hospital, Tunis, Tunisia. abir.bousetta@gmail.com.
Pediatric Nephrology (Berlin, Germany)
|January 7, 2026
Abstract:
Lesch-Nyhan syndrome (LNS) is a rare X-linked recessive disorder caused by complete deficiency of hypoxanthine-guanine phosphoribosyltransferase (HPRT). While the disease is classically characterized by severe neurological manifestations and self-injurious behavior, kidney involvement is an underrecognized but important aspect of the clinical spectrum.
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