Lowe Syndrome was first identified in 1951 by Dr. Charles Lowe and his colleagues at Massachusetts General Hospital in Boston. Lowe Syndrome is also called oculo-celebro-renal (OCRL) syndrome as it affects three body systems; eyes, brain, and kidneys. LS affects males almost exclusively while the carriers are always female. Lowe syndrome is extremely rare, affecting 1:500,000 males.
Causes
Because of the rarity of the condition, research is sketchy. In 1992, however, it was discovered that LS is caused by a defective gene that results in the deficiency of an enzyme known as phosphatidylinositol 4, 5-biphosphate (PIP2-5-phosphatase). This enzyme is responsible for normal metabolic activity in the Golgi apparatus area of a cell.
Without sufficient amounts of the enzyme, the functions regulated by the Golgi apparatus are abnormal, causing defects such as cataracts, infant glaucoma; delayed motor skill development, normal to impaired intellectual abilities, neonatal hypotonia (weak muscle tone) and kidney abnormailites, primarily Fanconi syndrome in which the kidneys are unable to reabsorb important nutrients leading to dehydration, and abnormally acidic blood. Fanconi syndrome can impair growth and cause rickets. The greatest threat to Lowe patients is life-threatening renal failure.
Features:
- Cataracts at birth
- Glaucoma
- Poor muscle tone and development
- Mental retardation
- Seizure disorders
- Renal issues
- Bone and joint problems
- Expected life span of 30 to 40 years
Carriers
Affected males inherit the syndrome via a mother who carries an altered copy of the OCRL gene. Female carriers generally do not present characteristics of the syndrome. They often, however, have changes in the lens of the eye. These changes do not impair vision and often go undetected. If lenticular opacities are discovered through an ophthalmologic examination, it is recommended that DNA tests be conducted for the mutation in family members. If the mutation proves to be positive, the female is a carrier. Prenatal DNA testing for pregnant family members is then recommended, if desired.
Treatments
Although there is no known cure for Lowe Syndrome, medication can be used to treat physical symptoms. Physical and occupational therapies as well as special education can be used to treat developmental symptoms. Boys affected with LS benefit from stimulation of colors and sounds, musical and physical contact.
Words of an LS Mom
Krissy McGee of Creswell, Oregon is the mother of an LS child, Camden, age 3. Krissy had no idea that she was an LS carrier nor the responsibility she would incur. Between visits to the physical therapist, occupational therapist, vision specialist and speech therapist, she medicates him four times daily through a G-tube surgically inserted into his abdomen.
"The biggest struggles of raising a son with Lowe Syndrome." she says, "is everyday watching him bear weight of success a child his age shouldn't have to endure. Everyday he battles this syndrome with an open mind and a free spirit." She smiles, "Yet nothing could beat the joy I feel watching him overcome the obstacles life has given him in his deck of cards".
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