Lowe Syndrome: Treatment, Cost and Side Effects

Lowe syndrome is a condition that is characterized by congenital cataracts (clouding of the lenses of the eyes). The problem with congenital cataract is that it can also lead to glaucoma characterized by increased pressure within the eye. The infant also develop kidney problems that occur in the first year of life and is known as renal Fanconi Syndrome. It is also associated with brain abnormalities and neonatal hypotonia (weak muscle tone) along with other developmental delays.

The condition is caused by a mutation in the OCRL gene that can either be inherited or occur on its own. However, it mostly can be seen appearing in males who inherited X-linked chromosome from the mother. About third of the affected males have some sort of mutations in the gene and in the rest which accounts for more than half the condition is inherited. For X-linked disorders, the condition is inherited from the mother who has one of the disease genes in one of their X-chromosome and is carriers of the condition. A characteristic feature of X-linked inheritance is that fathers cannot pass X-linked traits to their sons. We all know that the human traits visible in a person are inherited from the mother or father. There are two sex chromosomes, X and Y. Females have two X-chromosomes and males have one X-chromosome and Y-chromosome. Therefore, a male child will have one X-chromosome and one Y-chromosome with the X being dominant on the Y. It has been noticed that every female carriers of Lowe syndrome displays or shows characteristic changes in their lenses, different from any other metabolic cataract.

The mutations that occur in the OCRL gene leads to reduced activity of the phosphatidylinositol polyphosphate 5-phosphatase OCRL enzyme. Some mutations prevent the production of this enzyme and others reduce the activity of the enzyme or prevent it from interacting with other proteins within the cells.

Babies with lowe syndrome usually are very easily diagnosed owing to the visibility of cataract in one or both eyes. However, the doctor might carry out some tests to confirm the condition which include molecular genetic testing, biochemical genetic testing, blood tests, MRI and urinalysis.

Treatment for lowe syndrome involve the expertise of a multidisciplinary team that includes a pediatric ophthalmologist, nephrologist, geneticist, nutritionist, endocrinologist, neurologist, child development specialist, general surgeon, orthopedist and dentist. The various doctors will address the specific symptoms and conditions associated with the disease. The most visible symptoms of lowe syndrome, congenital cataracts generally require surgery to promote optimal development of vision. The doctor may also give eye glasses and contact lenses to help you see. However, if your child develops glaucoma, then it may be treated with eye drops. In rare cases when the child develops corneal keloids, he can turn blind as removing it surgically may lead to more aggressive recurrence.

Hypotonia or weak muscle tome characterized by difficulty in feeding may require nasogastric tube feeding or tube gastrostomy to achieve optimal nutrition. While kidney problems or proximal tubular dysfunction of the Fanconi, is usually treated with sodium and potassium bicarbonate or citrate. For end-stage renal disease treatment will usually include dialysis and kidney transplantation (adult men). Other developmental delays like bone density disorder (rickets) are treated with oral phosphate and oral calcitriol and behavior problems are generally treated with anticonvulsants and antidepressants medications. Moreover, the child or baby will also need early intervention programs like physical therapy, occupational therapy, and language therapy and special education services (for visually impaired).

Lowe syndrome is generally associated with a number of symptoms that occur from birth or develop within the first year. Cataract as a symptom appears from birth and can also result in glaucoma in one or both eyes and corneal keloids. The increased pressure on the eye due to glaucoma can result in blindness if not treated early. The child also has weak muscle tone (hypotonia) that can lead feeding difficulties, problems with breathing and delayed motor development such as sitting, standing and walking. He can also have occasional seizures and intellectual disability.

Kidney problems generally develop within a few years and are termed as renal Fanconi Syndrome. The kidneys play a vital role in maintaining the right amounts of minerals, salts, water and other substances in the body. With Fanconi syndrome, the kidneys are unable to reabsorb important nutrients into the bloodstream. Instead, the nutrients are excreted in the urine. This leads to increased urination, dehydration and abnormally acidic blood (metabolic acidosis). This can result in low bone density and end-stage renal disease (ESRD). If your babies display any of these conditions, then take him to a doctor immediately.

Infants or children suffering from other rare genetic conditions are not eligible for lowe syndrome treatment.

There is no single treatment for lowe syndrome and requires a combination of treatment procedures that can cause varying side effects in the body. The main side effects of cataract surgery are bleeding, infection and inflammation. If your child is taking antidepressants or antipsychotic drugs, the he can have side effects such as nausea, increased appetite and weight gain, fatigue and drowsiness, insomnia, dry mouth, blurred vision and constipation.

If your baby is having lowe syndrome, then he should be taken for routine eye evaluation to measure intraocular pressure and routine monitoring of kidney function, growth, developmental progress. The doctors should also evaluate for scoliosis and joint problems and carry out thorough dental examinations. The most important part is to give your baby as normal childhood as possible, ensuring that he is always supported and cared for.

As lowe syndrome is a genetic disorder with varied symptoms, infants or children having it requires lifelong care and support from family and doctors.

Lowe syndrome treatment in India is costly owing to the fact that it is a genetic disorder that requires lifelong care and support. Treatment usually includes cataract surgery, sodium and potassium oral supplements and physical therapy for which price starts at Rs.500 and can go up to Rs.2,00,000

The results of lowe syndrome treatment varies from case to case that depends on a baby's overall health and severity of the symptoms. It usually results in a life expentancy of 30 to 40 years.

There are no known alternatives for treating lowe syndrome.