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Book

Oculocerebrorenal Syndrome

Narmien Murdock  1 , Eva Chou  2
In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2025 Jan.
.
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Free Books & Documents
Book

Oculocerebrorenal Syndrome

Narmien Murdock et al.
Free Books & Documents

Excerpt

In the early 1950s, Lowe and colleagues defined a new syndrome in children that included the classic features of intellectual disability, organic aciduria, decreased renal ammonia production, bilateral cataracts, and glaucoma.

Since then, research has further characterized this disorder by identifying the presence of a Fanconi-type proximal renal tubulopathy, areflexia, and arthropathy.

The oculocerebrorenal syndrome of Lowe syndrome is now known to be an X-linked recessive disorder impacting fundamental intracellular processes, explaining its multi-organ manifestations. Early diagnosis and supportive care are crucial to prevent life-threatening complications and maximize the quality of life.

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Conflict of interest statement

Disclosure: Narmien Murdock declares no relevant financial relationships with ineligible companies.

Disclosure: Eva Chou declares no relevant financial relationships with ineligible companies.

References

    1. LOWE CU, TERREY M, MacLACHLAN EA. Organic-aciduria, decreased renal ammonia production, hydrophthalmos, and mental retardation; a clinical entity. AMA Am J Dis Child. 1952 Feb;83(2):164-84. - PubMed
    1. BICKEL H, THURSBY-PELHAM DC. Hyperamino-aciduria in Lignac-Fanconi disease, in galactosaemia and in an obscure syndrome. Arch Dis Child. 1954 Jun;29(145):224-31. - PMC - PubMed
    1. Loi M. Lowe syndrome. Orphanet J Rare Dis. 2006 May 18;1:16. - PMC - PubMed
    1. Bökenkamp A, Ludwig M. The oculocerebrorenal syndrome of Lowe: an update. Pediatr Nephrol. 2016 Dec;31(12):2201-2212. - PMC - PubMed
    1. Zhang X, Jefferson AB, Auethavekiat V, Majerus PW. The protein deficient in Lowe syndrome is a phosphatidylinositol-4,5-bisphosphate 5-phosphatase. Proc Natl Acad Sci U S A. 1995 May 23;92(11):4853-6. - PMC - PubMed

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