Progeria, also known as Hutchinson-Gilford Progeria Syndrome, is a rare genetic disorder that leads to premature aging in children. Most children with the disease eventually live to be 13 years old. In this article, we want to talk about this strange and rare disease.
Progeria is a very rare disorder. About 1 in 4 million babies worldwide is born with this condition. More than 130 cases have been reported since the disease was diagnosed in 1886. Progeria affects people of all genders or races with equal probability. Only one defect in a specific gene causes an abnormal protein called progerin. When cells use this protein, they break down more easily and the baby ages quickly.
Symptoms of premature aging in children
Usually the baby does not have a definite sign at birth; But in the first year of his life, the symptoms of the disease appear. The physical characteristics of these children are quite clear:
- They have bigger heads;
- Their lower jaw is small;
- They have a thin nose with a pointed tip;
- Their corners are stuck to their heads;
- Their height and weight increase slowly;
- Their hair falls out, including eyelashes and eyebrows;
- Their voices are louder than usual;
- The veins of their body are perfectly visible;
- Their teeth grow slowly and abnormally;
- Their fat and muscle are depleted quickly;
- They have large eyes that do not close completely;
- They have thin, wrinkled skin that usually has spots on it.
As these children get older, they develop diseases such as bone problems, hardening of the arteries, and heart disease that affect people over the age of 50. These children often die of heart attacks or strokes. Interestingly, progeria does not affect a child’s intelligence or brain development. These children are not more likely to get an infection than other children.
Causes and risk factors
Progeria is caused by a mutation in the LMNA gene. This gene provides instructions for making a protein called lamin A. Lamin A protein plays an important role in determining the shape of the nucleus within cells and supports the covering of the nucleus, which is the membrane that surrounds the nucleus.
Mutations that cause Progeria syndrome form an abnormal version of Lamin A called progeria. This altered protein destabilizes the nucleus accumbens, gradually damaging the nucleus and increasing the risk of premature cell death.
This syndrome is considered an autosomal dominant disease. This means that just one copy of this altered gene in each cell is enough to cause the disorder. This condition is caused by new mutations in the LMNA gene and almost always occurs in people who do not have a family history of such a disorder. Researchers have not found any risk factors for Progeria. This problem is not inherited at all and is not transmitted to families.
The symptoms of this disease are obvious. Most likely, the pediatrician will diagnose it at a routine examination. If you notice changes in your child that appear to be symptoms of progeria, talk to your pediatrician. After a physical examination, hearing and vision tests, a pulse and blood pressure test, and a comparison of the child’s height and weight with other children of the same age, the doctor will determine if the child has symptoms of progeria based on his or her growth chart.
If the symptoms have not started yet and the specialist doctor thinks that the child will soon have symptoms of the disease, he or she may refer you to a geneticist. The geneticist will write a blood test for the child and may use X-rays to look for signs.
Treatment of premature aging in children
There is no cure for this disease; But researchers are working on a cure. Currently, a clinical trial is investigating a drug called FTIs (Franzyl Transferase Inhibitors) that is used to treat cancer to see if it can help slow the progression of progeria. Treatment can only help reduce or delay some of the symptoms of the disease.
1. Medication and diet
Because the disease affects many parts of the body, your doctor may use different methods to delay some of the problems in children with progeria; For example, your doctor may prescribe a number of medications to lower cholesterol or prevent blood clots, and suggest changes to your child’s diet.
Daily low-dose aspirin prevents heart attacks and strokes. Growth hormone also helps increase her weight and height. Lunafarnib also prevents the accumulation of altered progerin protein, which affects the heart. The Food and Drug Administration has approved the drug. To treat problems such as joint stiffness or hip problems, your doctor may use occupational therapy to help your baby move more easily.
For some children, coronary artery biopsy or angioplasty may be performed to slow the progression of heart disease.
3. Home care
Parents and caregivers of the child at home should be careful that these children do not become dehydrated, especially when they are sick or the weather is hot. If they do not eat enough, small meals will help their appetite. Padded shoes also relieve discomfort when walking and encourage them to play and work.
These children should use proper sunscreen during the day. Their sunscreen must have an SPF of at least 15 and must be of the Broad Spectrum type to protect the baby’s skin from both types of ultraviolet rays (UVA and UVB). If you are in a place where your baby may be sweating or swimming, renew your sunscreen every 2 hours.
Consequences of premature aging in children
These children often develop atherosclerosis later in life, which narrows the arteries and slows their blood flow. On this account, not enough nutrients and oxygen reach different parts of their body. Most children with progeria die of heart attacks and stroke due to atherosclerosis.
Two diseases of Wiedmann-Rauten ostrich syndrome (Wiedemann – RautenstrauchAnd Werner syndrome (WernerThey are quite similar to Progeria, except that they are hereditary. These two syndromes are also rare and cause rapid aging and shortening of a child’s life.
Premature aging in children, although a serious and unpleasant disease for the child and those around him, is very rare. If you notice symptoms, do not worry and see a doctor. Care methods are important in reducing symptoms and slowing the progression of the disease. However, given the rarity of this syndrome, consult a pediatrician before making any conclusions.