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VOLUME 15 , ISSUE 3 ( July-September, 2022 ) > List of Articles

REVIEW ARTICLE

Lowe Syndrome

Sowndariya Perumal

Keywords : Creatine phosphokinase test, Glomerular filtration rate, Intraocular pressure, Magnetic resonance imaging, Oculocerebrorenal syndrome of Lowe

Citation Information : Perumal S. Lowe Syndrome. 2022; 15 (3):73-76.

DOI: 10.5005/jp-journals-10084-13150

License: CC BY-NC 4.0

Published Online: 31-12-2022

Copyright Statement:  Copyright © 2022; The Author(s).


Abstract

Lowe syndrome or Oculocerebrorenal Syndrome of Lowe (OCRL) is a rare disorder characterized by multiple features occurring mainly in males. Its prevalence is approximately 1 in 500,000. Its systemic manifestations include mental retardation, hypotonia and kidney dysfunction in the form of Fanconi syndrome. It causes physical and mental handicaps and mental problems. Children with Lowe syndrome and glaucoma often require surgery to treat their glaucoma. Lowe syndrome is a condition that primarily affects the eyes, brain, and kidneys. It is brought on by a single faulty gene on the X-chromosome, which prevents the production of enzymes. Treatment aids in surviving, but mental capacity is compromised. The severity of neurological and renal manifestations affects quality of life.


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