HUNTER SYNDROME

HUNTER SYNDROME

Hunter syndrome is an inherited genetic disorder caused by a missing or malfunctioning enzyme called 2-sulfatase. This disease is very rare. It breaks down certain compound molecules, and with the insuffiency of an enzyme, the substances build up in harmful amounts. This syndrome is called Hunter syndrome.

The massive amounts of these harmful substances eventually cause permanent and increasing damage that affect physical appearance and abilities, mental development, and organ function.

Mucopolysaccharidoses (MPSs) is a type of metabolic inherited disorder. Hunter syndrome is commonly found in boys.

Treatment requires managing symptoms and complications, but this is incurable.

SYMPTOMS

Hunter syndrome symptoms are mild to severe. Symptoms aren’t present at birth, but harmful substances start building up at the age of two to four years old.

Signs and symptoms may include:

  • An enlarged head
  • Thickening of the lips
  • Broad nose and flared nostrils
  • A protruding tongue
  • A deep, hoarse voice
  • Abnormal bone size or shape and other skeletal irregularities
  • A distended abdomen, as the result of enlarged internal organs
  • Chronic diarrhea
  • White skin growths that resemble pebbles
  • Joint stiffness
  • Aggressive behavior
  • Stunted growth
  • Delayed development, such as late walking or talking

DIAGNOSIS

Hunter syndrome progresses slowly and its signs and symptoms overlap with a number of other disorders. Hunter syndrome babies always look healthy at birth. The first signs can usually be seen in facial features.

Diagnosis can be confirmed by genetic examination. A urine sample can be examined for the insufficient enzyme or waste products of the compound sugar molecules related to this disorder.

Unborn babies can be diagnosed if he or she carries an abnormal gene or is affected by the disorder. You can verify it by prenatal testing. A test that uses a fluid that surrounds the baby (amniocentesis) or a tissue sample from the placenta (chronic villus sampling) may be done.

TREATMENT

Prenatal testing can detect if an unborn baby carries an abnormal gene or is affected by the disorder.

To ease sleep apnea, doctors may remove tonsils and adenoids that block your child’s airway. Yet, there is no assurance because as the disease develops, the tissues may continue to thicken and these problems can happen again.

There are breathing devices that can help your child avoid low blood oxygen levels. Continuous positive airway pressure or CPAP and BiPAP devices can help with upper airway obstructions and sleep apnea.

The doctor will watch your child’s condition closely. The patient will strictly be observed for cardiovascular complications. Abnormal blood pressure, a heart murmur, and leaky heart valves may be diagnosed. If severe cardiovascular problems are seen on your baby, your doctor may suggest surgery to replace heart valves.

In the case of children with Hunter syndrome, most of them don’t heal well and may usually have complications after surgery. The alternative ways are limited for skeletal and connective tissue complications. For example, to stabilize the spine, you may need to undergo surgery which is difficult when bones are fragile.

Physical therapy can enhance a child’s joint resilience. This therapy helps manage stiffness and maintain function. But it may not stop the continuous decline of joint motion. Your child may use a wheelchair due to pain and limited stamina.

The development of fluids and tissues surround the brain can cause difficulty in addressing the essential risks in treating these affected parts. To drain excess fluids or remove built-up tissues, your child’s doctor will perform surgery. Your doctor will prescribe anticonvulsant medications if your child has seizures.

Providing a safe home environment for your child with Hunter syndrome is the most important way to manage problems. Your child will show abnormal behavior. Treating behavior problems with medications have limited success .Side effects can occur and can worsen the complications of the disease. Respiratory problems are one of the complications that can happen.

A child with Hunter syndrome can suffer from sleep disorder complications. To improve your child’s sleep, he or she can take medications including sedatives and melatonin.

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