Lowe syndrome
Lowe Syndrome
Lowe syndrome (pronounced /loʊ/), also known as oculocerebrorenal syndrome (pronounced /ˌɒkjʊloʊˌsɛrɪbroʊrɪˈnæl/), is a rare genetic disorder that affects the eyes, brain, and kidneys. The syndrome was first described in 1952 by Dr. Charles Lowe and his colleagues, hence its name.
Etymology
The term "Lowe syndrome" is derived from the name of Dr. Charles Lowe, who first described the condition. The term "oculocerebrorenal syndrome" is derived from the Latin words "oculus" (eye), "cerebrum" (brain), and "ren" (kidney), which describe the main organs affected by the disorder.
Symptoms
The symptoms of Lowe syndrome include cataracts in both eyes at birth, mental intellectual disabilities, poor muscle tone (hypotonia), and kidney problems that can lead to renal failure. Other symptoms may include growth delays, skeletal abnormalities, and certain characteristic facial features.
Causes
Lowe syndrome is caused by mutations in the OCRL1 gene. This gene provides instructions for making an enzyme that is involved in cell growth and maintenance. Mutations in the OCRL1 gene disrupt the function of this enzyme, leading to the symptoms of Lowe syndrome.
Diagnosis
Diagnosis of Lowe syndrome is based on clinical features, including the presence of cataracts at birth, intellectual disabilities, and kidney abnormalities. Genetic testing can confirm the diagnosis by identifying a mutation in the OCRL1 gene.
Treatment
There is currently no cure for Lowe syndrome. Treatment is supportive and aims to manage the symptoms. This may include surgery to remove cataracts, therapies to support development and learning, and treatment for kidney problems.
Prognosis
The prognosis for individuals with Lowe syndrome varies. Some individuals may have a normal lifespan with appropriate management of their symptoms, while others may have a shortened lifespan due to complications such as renal failure.
See also
External links
- Medical encyclopedia article on Lowe syndrome
- Wikipedia's article - Lowe syndrome
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