Lowe Syndrome synonyms

Lowe Syndrome, also known as Oculocerebrorenal Syndrome, is a rare genetic disorder that primarily affects males. It is characterized by a triad of symptoms involving the eyes, brain, and kidneys. This condition was first described by Dr. Charles Lowe in 1952, hence the name Lowe Syndrome.

Oculocerebrorenal Syndrome refers to the involvement of the eyes (oculo-), brain (cerebro-), and kidneys (-renal) in this disorder. The syndrome is caused by mutations in the OCRL gene, which is responsible for producing an enzyme called inositol polyphosphate 5-phosphatase. This enzyme plays a crucial role in various cellular processes, including the regulation of intracellular trafficking and signaling.

Individuals with Lowe Syndrome typically present with congenital cataracts, which are clouding of the lenses in the eyes. These cataracts can cause vision impairment or blindness if left untreated. Additionally, affected individuals may experience intellectual disability, delayed development, and seizures due to the brain abnormalities associated with the syndrome.

The renal manifestations of Lowe Syndrome include a condition called Fanconi syndrome, which leads to the excessive loss of important substances such as amino acids, glucose, and electrolytes in the urine. This can result in growth failure, bone abnormalities, and kidney dysfunction. Furthermore, individuals with Lowe Syndrome may also exhibit physical features such as hypotonia (low muscle tone), joint laxity, and delayed or absent puberty.

Although there is currently no cure for Lowe Syndrome, management focuses on addressing the specific symptoms and complications associated with the disorder. Treatment may involve surgical removal of cataracts, supportive care for kidney dysfunction, physical and occupational therapy, and educational interventions to support intellectual development.