Progeria is a rare inherited disease that causes children to experience premature aging in the first 2 years of life. Children who suffer from progeria usually experience baldness, have skin which wrinkled, and his body is smaller than a child his age.
Progeria is a very rare condition. Worldwide, only 1 in 4 million babies are born with this condition. Progeria is caused by a genetic disorder that causes sufferers to experience premature aging.
Causes of Progeria
Progeria or Hutchinson-Gilford progeria is caused by changes (mutations) in a single gene called LMNA. It is not known exactly what causes this genetic mutation and what are the factors that trigger it.
The LNMA gene mutation causes the formation of progerin, an abnormal protein that causes cells to age rapidly. As a result, children who suffer from progeria will experience symptoms of premature aging.
Hutchinson-Gilford progeria is not a hereditary disease. There are 2 conditions that also cause symptoms of premature aging such as Hutchinson-Gilford progeria, namely:
- Wiedemann-Rautenstrauch progeria syndrome, which is progeria that occurs in the fetus. When a baby is born, the signs of aging can be clearly seen.
- Werner's progeria syndrome, which is progeria that occurs in adolescents and adults. In this condition, patients can experience osteoporosis, cataracts, and diabetes.
risk factorsprogeria
There are no known factors that increase the risk of progeria. However, mothers who have given birth to a child with the condition progeria have a 2–3% chance of carrying a child with the condition in a subsequent pregnancy.
Symptoms of Progeria
Babies who have progeria will usually look normal early in life. Usually, the symptoms of progeria only begin to appear when the child is 9 to 24 months old. Children who suffer from progeria will experience growth delays and appear to be experiencing signs of aging. Even so, this condition generally does not interfere with the motor development (motion) and intelligence of children.
Symptoms of progeria include:
- Lower height and weight than children their age or stunted growth
- The face looks small, the jaw is small, the lips are thin, and the nose is shaped like a bird's beak
- Hair on the head, eyes, and eyebrows does not grow (bald)
- The eyeballs protrude and the eyelids cannot close completely
- Thin skin, wrinkles, and dark spots appear, just like old people
- Teeth grow late or grow in an abnormal shape
- Decreased hearing ability
- Stiff joints
- Decreased muscle mass and fat under the skin
- The skin becomes hard and stiff like having scleroderma
- The veins are clearly visible
- Voices sound louder
Children who suffer from progeria also often experience heart disease, plaque buildup in the arteries, stroke, cataracts, arthritis, and dislocation of the hip bones.
When to go to the doctor
Immediately consult your child's pediatrician if he experiences the symptoms mentioned above. Generally, the symptoms will be seen when the child is around 9-24 months. Early detection and treatment as early as possible is needed to improve the quality of life of children and slow the occurrence of complications.
Do regular check-ups with the doctor or posyandu to monitor your child's growth and development. Through this routine examination, developmental abnormalities in children can be detected early.
Diagnosis of Progeria
To diagnose progeria, the doctor will ask and answer questions with parents about the complaints and symptoms experienced by the child. The doctor will then perform a thorough examination of the child, including:
- Measurement of body temperature, blood pressure, heart rate and respiratory rate
- Examination to assess signs of premature aging in children
- Measurement of weight and height
- Visual acuity check and hearing ability
- Examination to assess child development
To confirm the diagnosis, the doctor will perform a genetic examination using a sample of the child's blood.
In some conditions, the symptoms of progeria have appeared since the newborn. These symptoms can be seen on the baby's face and skin when doctors perform routine checks on newborns.
Progeria Treatment
Progeria is not yet curable. Treatment is aimed at improving the quality of life, and slowing the appearance of complaints and complications.
Progeria treatment will be tailored to the conditions and symptoms that appear. This treatment is generally in the form of:
Periodic checks
To slow down the occurrence of complications, children suffering from progeria need to have regular health checks. Some of the health checks that will be carried out are heart function checks, vision, hearing, teeth, skin, and bones.
In addition, regular check-ups are also carried out to monitor the growth and development of children.
Giving omedicine
Medicines will be given by the doctor according to the symptoms experienced by people with progeria. Some types of drugs that can be given are:
- Antiplatelet drugs, such as aspirin, to prevent heart attacks and strokes
- Cholesterol-lowering drugs, such as statins, to treat high cholesterol
- Antihypertensive drugs to lower blood pressure
- Anticoagulants to prevent blood clots from forming
Physiotherapy and therapy occupation
Children who suffer from progeria generally feel pain and experience movement disorders due to suffering from arthritis. Physiotherapy is done to train the limbs so that children can stay active. This therapy can also help relieve pain.
In addition to physical therapy, children suffering from progeria will also receive occupational therapy. The goal of occupational therapy is for children to be able to perform daily activities, such as eating, bathing, or dressing, independently.
Home care
Some of the treatments that need to be done at home in children with progeria are:
- Provide adequate intake of nutritious food and water
- Provide supplements according to doctor's recommendations to meet the daily needs of children for certain nutrients
- Wear comfortable footwear that is in accordance with the shape of the child's feet so that he can move comfortably
- Applying sunscreen on the child's skin if he wants to do activities outside the house during the day, so that his skin does not burn
- Complete the child's immunizations and undergo regular check-ups with the doctor according to schedule
Complications of Progeria
Over time, people with progeria will develop arteriosclerosis, which is hardening of the arteries. Arteriosclerosis will increase the risk of stroke and heart disease, such as a heart attack or congestive heart failure.
In addition, progeria can also cause other complications, such as:
- Hip dislocation
- Cataract
- Inflammation of the joints (arthritis)
Progeria Prevention
Progeria is difficult to prevent because it occurs randomly. If your child has progeria and you intend to have more children, you should first consult with your doctor. This is because you have a higher risk of having a child with a similar condition in your next pregnancy.