Oculocerebrorenal syndrome
Oculocerebrorenal syndrome (pronounced: ok-yoo-loh-ser-uh-broh-reen-al sin-drohm), also known as Lowe syndrome, is a rare genetic disorder that affects the eyes, brain, and kidneys.
Etymology
The term "Oculocerebrorenal" is derived from the Latin words "oculus" for eye, "cerebrum" for brain, and "renal" for kidney, indicating the organs affected by this syndrome. The syndrome is also named after Charles Upton Lowe, who first described it in 1952.
Symptoms
The symptoms of Oculocerebrorenal syndrome include cataracts in both eyes at birth, mental impairment, and kidney problems that can lead to renal failure. Other symptoms may include muscle weakness (hypotonia), brittle bones that are prone to fractures (osteoporosis), and behavior problems.
Causes
Oculocerebrorenal syndrome is caused by mutations in the OCRL1 gene. This gene provides instructions for making an enzyme that is found in cells throughout the body. Mutations in the OCRL1 gene disrupt the enzyme's function, leading to the symptoms of Oculocerebrorenal syndrome.
Diagnosis
Diagnosis of Oculocerebrorenal syndrome is based on clinical findings, including the presence of cataracts at birth, mental impairment, and kidney problems. Genetic testing can confirm the diagnosis by identifying a mutation in the OCRL1 gene.
Treatment
There is currently no cure for Oculocerebrorenal syndrome. Treatment is supportive and aims to manage the symptoms. This may include surgery to remove cataracts, special education for mental impairment, and treatment for kidney problems.
See also
External links
- Medical encyclopedia article on Oculocerebrorenal syndrome
- Wikipedia's article - Oculocerebrorenal syndrome
This WikiMD dictionary article is a stub. You can help make it a full article.
Languages: - East Asian
中文,
日本,
한국어,
South Asian
हिन्दी,
Urdu,
বাংলা,
తెలుగు,
தமிழ்,
ಕನ್ನಡ,
Southeast Asian
Indonesian,
Vietnamese,
Thai,
မြန်မာဘာသာ,
European
español,
Deutsch,
français,
русский,
português do Brasil,
Italian,
polski