LOWE DISEASE Meaning and
Definition
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Lowe disease, also known as oculocerebrorenal syndrome or Dent-2 disease, is a rare genetic disorder characterized by a range of multi-systemic abnormalities that affect the eyes, brain, and kidneys.
Lowe disease primarily affects males, although some females can exhibit mild symptoms. It is caused by a mutation in the OCRL gene, which plays a critical role in cell membrane trafficking, leading to impaired cellular functions. Symptoms typically manifest early in life, often appearing within the first year.
Ocular manifestations are among the most recognizable features of Lowe disease, including congenital cataracts, abnormal clouding of the lens, and glaucoma. Patients may also experience developmental delays and intellectual disabilities, with varying degrees of severity. Additionally, kidney problems are prevalent, such as renal Fanconi syndrome, which is characterized by excessive loss of important nutrients like glucose, phosphate, and amino acids in the urine. This can lead to growth stunting, bone abnormalities, and kidney dysfunction.
Further complications may arise due to Lowe disease, including hypotonia (low muscle tone), seizures, hormonal imbalances, and skeletal abnormalities. Diagnosis is typically confirmed through genetic testing, although clinical evaluation of symptoms is also paramount.
Lowe disease is a lifelong condition with no known cure. Treatment is largely symptomatic and focuses on managing symptoms and complications. Regular monitoring and specialized care by a multidisciplinary medical team can help enhance the quality of life for individuals affected by Lowe disease.
Common Misspellings for LOWE DISEASE
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Etymology of LOWE DISEASE
The term "Lowe disease" refers to a rare genetic disorder known as Dent-2 disease or oculocerebrorenal syndrome (OCRL). The word "Lowe" in Lowe disease comes from the surname of the physician who first described and identified the condition.
Lowe disease is named after Charles Upton Lowe, an ophthalmologist, and pediatrician from the United States. In 1952, Dr. Lowe described and published his observations on a new syndrome that affected the eyes, central nervous system, and kidneys. The disorder was subsequently named after him to honor his contributions to its understanding and diagnosis.
It is important to note that, in the medical field, it is common for diseases or conditions to be named after the physicians or scientists who first identified or extensively studied them. This helps to establish a standard terminology and allows for easier recognition and communication among medical professionals.
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