Lowe syndrome

Lowe syndrome, also known as oculocerebrorenal syndrome, is a rare genetic disorder that affects multiple systems of the body. It is characterized by eye abnormalities, kidney dysfunction, and neurological problems.

Symptoms and Signs

The symptoms of Lowe syndrome are diverse and can vary greatly from person to person. The most common symptoms include cataracts in both eyes, which are typically present at birth, and kidney problems that can lead to a condition called Fanconi syndrome. Neurological problems are also common and can include intellectual disability, seizures, and hypotonia (low muscle tone).

Causes

Lowe syndrome is caused by mutations in the OCRL1 gene. This gene provides instructions for making an enzyme that is involved in the body's production of a molecule called inositol trisphosphate. Mutations in the OCRL1 gene disrupt the normal function of this enzyme, leading to the symptoms of Lowe syndrome.

Diagnosis

Diagnosis of Lowe syndrome is typically based on the presence of the characteristic symptoms. 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 focused on managing the symptoms and may include surgery to remove cataracts, medications to control seizures, and therapies to improve muscle tone and coordination.

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 experience serious complications such as kidney failure.

See Also

• Genetic disorders
• Rare diseases
• Kidney diseases
• Eye diseases

References

• National Institutes of Health
• Genetics Home Reference
• National Organization for Rare Disorders

NIH genetic and rare disease info

• NIH info on Lowe syndrome

Lowe syndrome is a rare disease.

Template:Kidney diseases

Lowe syndrome Resources
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