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<p>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.</p>

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When the kidneys speak for the brain: a nephrological presentation of a rare neurological disorder

  • 期刊论文

  • 发表日期：

    2026年1月7日

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  • Abir Boussetta,
  • Tahar Gargah

摘要

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.