- In this article, we will provide full information about Progeria Syndrome. So, study carefully for knowing about that syndrome. I will mentioned bellow the page content;
- What Is Progeria?
- Progeria Symptoms
- Progeria Causes and Risk Factors
- Progeria Diagnosis
- Progeria Treatments
- Progeria Complications
- What is Progeria?
Progeria (from Greek progeros - prematurely aged) is a special type of pathology, an independent disease manifested by pathological premature aging.
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Progeria is distinguished between children and adults.
Progeria in children is a Getchinson-Guildford syndrome. This disease is rare: about 70 cases of it and isolated cases of congenital progeria have been described. According to a number of authors, the disease is hereditary, inherited by autosomal recessive type. It is assumed that it is a consequence of diencephalic-pituitary insufficiency or secondary damage to several endocrine glands. Progeria can also be a symptom of a number of other hereditary, endocrine diseases, it manifests itself at the age of 5-8 months, sometimes at 3-4 years. It begins with a sharp slowdown in physical development. At the same time, the skin becomes dry, wrinkled (parchment); the hair thins, grays, there may be no eyebrows and eyelashes; nails become thin, brittle. The head increases significantly, the face becomes mask-like, the nose becomes hooked, the ears are protruding, exophthalm develops. Teeth erun late or do not appear at all. Weak muscles, absence of subcutaneous tissue, thin limbs are also characteristic. The genitals are underdeveloped, there are no secondary sexual characteristics. The greatest changes occur in the cardiovascular system: they are manifested by generalized vascular atherosclerosis, coronary artery thrombosis, myocardial infarctions. Fat-like deposits accumulate in the brain, liver, kidneys, endocrine organs, and sclerosis develops. At a late stage of the disease, due to progressive atherosclerosis, intelligence decreases, neurological disorders occur. The prognosis for this disease is unfavorable. Life expectancy does not exceed 7 - 27 years (on average - 13 years). Patients die from exhaustion, myocardial infarction, intercurrent diseases.
Adult Progeria, or Werner syndrome, is a hereditary sympto-mocomplex of premature ageing. The disease is transmitted by autosomal recessive type. Currently, the gene that causes the development of this syndrome has been identified. The disease manifests itself at the age of 20-30, more often in men. Its main features are facial features: pointed, "bird's nose", protruding chin, narrow oral foramen; high, hoarse voice, pale skin, thinning of subcutaneous fibre and atrophy of limb muscles, often - the appearance of trophic ulcers, malignant tumours; st Patients die at the age of about 40 from diseases of the cardiovascular system, tumour development, intercurrent diseases.
- Progeria Symptoms
There are usually no symptoms when a baby is born, but they start to show signs of the disease during their first year. They develop physical traits including:
- Slow height and weight growth
- A bigger head
- Large eyes, which they can’t close all the way
- A small lower jaw
- A thin nose with a "beaked" tip
- Ears that stick out
- Veins you can see
- Slow and abnormal tooth growth
- A high-pitched voice
- Loss of body fat and muscle
- Hair loss, including eyelashes and eyebrows
- Thin, wrinkled skin that shows spots
- Progeria Causes and Risk Factors
A mutation in the lamin A (LMNA) gene causes progeria. The gene makes a protein that holds together the center of a cell. With progeria, the body makes an abnormal form of lamin A called progerin, which leads to rapid aging.
Researchers haven’t found any risk factors for progeria. It isn’t inherited or passed down in families.
- Progeria Diagnosis
The symptoms are noticeable. It's likely that a pediatrician will spot them during a routine checkup.
If you see changes in your child that seem like symptoms of progeria, make an appointment with your pediatrician or family doctor. Your doctor will do a physical exam, test hearing and vision, measure pulse and blood pressure, and compare your child's height and weight to other kids the same age.
If your pediatrician is concerned, you may need to see a specialist in medical genetics who can confirm the diagnosis with a blood test. Before the genetic blood tests were availables, doctors could only diagnose progeria with X-rays and observation.
- Progeria treatment
There's no cure for progeria, but researchers are working on finding one. One clinical trial is looking at a kind of cancer drug, FTIs (farnesyltransferase inhibitors), to see if it can help slow the disease.
Treatments can help ease or delay some of the disease's symptoms.
Medication and diet changes. Your child's doctor may suggest drugs and changes to your child’s diet to lower cholesterol or prevent blood clots. A low dose of aspirin every day can help prevent heart attacks and stroke. Growth hormone can help build height and weight. The FDA has approved lonafarnib (Zokinvy) prevent the buildup of defective progerin which can effect the heart.
Physical and occupational therapy can help your child keep moving if they have stiff joints or hip problems.
Surgery. Some children may have coronary bypass surgery or angioplasty to slow the progression of heart disease.
At home. Kids with progeria are more likely to get dehydrated, so they need to drink plenty of water, especially when they're sick or it's hot. Small meals more often can help them eat enough, too. Cushioned shoes or inserts can ease discomfort and encourage your child to play and stay active.
Sunscreen. Use a broad-spectrum sunscreen with an SPF of at least 15. Reapply it every 2 hours, or more if your child is sweating or swimming.
- Progeria complication
Children with progeria usually develop a condition called atherosclerosis, which hardens and slows blood flow from blood vessels that carry nutrients and oxygen to your body. Most children with progeria die of heart attacks and strokes related to atherosclerosis.
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