What Are the Pros and Cons of Gene Therapy for Cystic Fibrosis?

About one in five patients is diagnosed with cystic fibrosis at birth. Their intestines are blocked by a large amount of sticky meconium (normally, black tar-like faeces are excreted from the body shortly after each baby is born), which may require surgery.

Cystic fibrosis

Cystic fibrosis Cystic fibrosis is a genetic disease and there is currently no cure for it. Cystic fibrosis may affect many parts of the body, with the lungs and digestive system being the most affected. White people most often develop cystic fibrosis. About one in every 2,500 newborn babies develop this genetic disease. Africans and Asians suffer less.

Cystic fibrosis diagnosis

About half of patients with cystic fibrosis are confirmed to have the disease in their babies because they have not grown or gained weight like normal babies. This is because the pancreas fails to make the required chemicals-enzymes. Enzymes enter the intestine when they leave the stomach; without them, fat in food cannot be digested. Because fat is excreted directly from the intestine before digestion, children with this condition cannot absorb the calories and nutrients in fat, and even if they are developing, it is difficult to gain weight. In addition, due to the large amount of fat in the stool, patients' stools are usually very greasy and have a foul odor.

About half of people with cystic fibrosis will be repeatedly infected with chest infections and pneumonia.

Cystic fibrosis manifestations

Cystic fibrosis is a "multisystem" disease that affects multiple organs in the body. However, most conditions are related to the lungs and intestines.

In the lungs of a healthy person, there are several components of mucus that often flow on the surface of the airway, whose function is to remove metabolic waste and bacteria. However, the mucus secreted by patients with cystic fibrosis is too viscous to function as usual. These slimes provide the ideal environment for bacteria to reproduce.

Patients with cystic fibrosis may experience constant bacterial infections in the chest and lungs. If not treated early, these infections can become incurable. Symptoms include prolonged cough, sputum (saliva and mucus), asthma, and difficulty breathing during daily activities.

Patients who have been diagnosed with cystic fibrosis without proper treatment will continue to discharge greasy stools, abdominal pain, and difficulty in gaining weight normally. Constipation is also a common condition; the bowel can sometimes become completely blocked, causing severe abdominal pain.

Other symptoms of cystic fibrosis

Other symptoms of cystic fibrosis include:

The symptoms of cystic fibrosis can vary depending on the age of the patient, the extent to which the organs of the body are affected, previous treatment, and infection by other different conditions. All in all, cystic fibrosis has systemic effects, including growth, respiratory, digestive, and sexual organs. Newborns with cystic fibrosis have problems with slow growth rates and intestinal obstruction. As the patient grows, other symptoms follow, including chronic dysplasia, frequent lung infections, and digestion Difficulties, and cause infertility.

Cystic fibrosis lung and respiratory infections

Aspergillus fumigatus is a common mold in the lungs of patients with cystic fibrosis, which often makes the patient's condition worse.

The thick mucus produced by cystic fibrosis can block small trachea. These mucus in the lungs become a place for bacteria to multiply, causing the lungs to be repeatedly infected and inflamed, resulting in changes in lung tissue. Early symptoms include a constant cough, heavy sputum, and reduced exercise are common. In the later stages, changes in lung tissue cause long-term breathing difficulties.

Other symptoms include coughing up blood (hemoptysis), bronchiectasis, pulmonary hypertension, heart failure, decreased efficiency of the circulatory system in transporting oxygen, and failure of the respiratory organs. In addition to bacterial infections, patients often develop other lung-related symptoms, including allergic bronchopulmonary aspergillosis, an adverse reaction of the patient's body to a common mold, Aspergillus fumigatus, Cause severe dyspnea, and mycobacterium avium complex is a bacterium that is quite similar to tuberculosis bacteria, it further infects lung tissue, and most antibiotics No bacteria are effective.

The thick mucus in the sinuses can also block the sinuses and cause infections. Symptoms include facial pain, fever, and headache. Due to prolonged repeated inflammation, nasal hyperplasia may occur in the nasal cavity of patients with cystic fibrosis, and these nasal polyps can obstruct the respiratory tract and cause breathing difficulties.

Cystic fibrosis of the digestive tract, liver, and pancreas

The ability to defecate can be observed when diagnosing a newborn with cystic fibrosis. If a newborn cannot successfully defecate, it can be diagnosed with cystic fibrosis. Unexportable feces can completely block the baby's intestines, and this symptom has a one-tenth chance of occurring in newborns with cystic fibrosis. Intestinal perforations are also common due to the accumulation of large amounts of feces. Others include malnutrition and a significant increase in abdominal pressure during coughing.

In addition to the accumulation of mucus in the lungs, the pancreas, which is responsible for secreting pancreatic juice, also accumulates thick secretions. These too thick mucus will block the pancreatic digestive juices from entering the intestinal tract, and these digestive juices accumulated in the pancreas will cause pancreatitis, further causing irreversible damage to the pancreas. [7] In addition to the damage to the pancreas, the digestive tract will also be difficult to digest and absorb food nutrients due to the lack of digestive juice of the pancreas, which will lead to malnutrition and stunting. Many nutrients and vitamins needed by the human body Unavailable, for example, fat-soluble vitamins such as vitamins A, D, E, and K. In addition to pancreatic problems, patients often have gastric acid reflux, intestinal obstruction caused by intussusception, and constipation. Patients may have another large bowel obstruction similar to a fetal intestinal obstruction.

Also affected by thick digestive secretions are the liver. Bile, secreted by the liver to help digest fat, can block the bile ducts and cause damage to the liver. Over time, liver cirrhosis may cause the liver to lose its ability to remove endotoxins from the body and produce important proteins such as coagulation factors.

Cystic fibrosis endocrine disease and growth

Finger swelling is common in patients with cystic fibrosis.

When the pancreas is damaged, the insulin-producing islet cells inside it may also be damaged and die, leading to diabetes. The affected intestinal absorptive capacity can easily lead to malnutrition. For example, vitamin D, which is important for calcium and phosphorus, which are essential for regulating bone development, can cause osteoporosis and make patients more likely to fracture if they are not absorbed. In addition, swelling of the fingers and toes is also common in patients due to the effects of this chronic disease and the result of prolonged hypoxia in the peripheral bones.

Another very common symptom is dysplasia. Children with this disease usually grow much slower than children of the same age, and cystic fibrosis is usually not detected until the diagnosis of dysplasia. Many causes of this condition can cause stunting, such as long-term lung infections, poor nutrient absorption, or excessively fast metabolic rates.

Cystic fibrosis infertility

Both men and women are affected by this disease and cause infertility. According to statistics, 97% of male patients are completely infertile. This is because although male patients can produce sperm normally, they lack the physical connection between testes and External vas deferens, so normal and healthy sperm do not exist in the sperm of natural ejaculation. As a result, many men who are infertile due to a lack of vas deferens can be diagnosed with mild cystic fibrosis symptoms that have not previously been detected during an artificial conception. Among women with cystic fibrosis, 20% are infertility caused by excessively thick cervical mucus, because excessively thick mucus can prevent the sperm from advancing. Sometimes infertility can also result from abnormal ovulation or menopause caused by malnutrition.

Long-term outlook for cystic fibrosis

In order to find out the treatment of lung diseases caused by cystic fibrosis, the medical community has invested a lot of money and efforts to study gene therapy. At present, children born with cystic fibrosis have gradually extended their lives, but they are still shorter than the average person. Patients live an average of more than 30 years; however, with the help of today's advanced treatments, patients have more than 80% chance of surviving to around 50.

Cystic fibrosis Cystic fibrosis test

If someone has had cystic fibrosis at home, these people can be tested before marriage to see if they have the cystic fibrosis gene. If both of the couples are carriers, or if they have a child who already has cystic fibrosis, they can undergo a chorionic villus sampling test at the beginning of pregnancy to check whether the fetus is normal. The doctor will take a biopsy (tissue sample) from the placenta for examination. However, doing so may result in small births. If a biopsy shows a positive result of cystic fibrosis, parents can choose to terminate the pregnancy (induced abortion).

Cystic fibrosis treatment

Patients with cystic fibrosis must receive chest and lung physiotherapy every day-vigorously massaging the surface of the chest cavity to reduce the viscosity of mucus. Health care providers will teach parents of children with cystic fibrosis. Older children and adults need to learn how to do physical therapy on their own.

Patients with cystic fibrosis must be treated with antibiotics immediately if they have any chest and lung infections. Most patients need to take capsule medicines together with meals or snacks to supplement the pancreatic enzymes that the body lacks, so that the body can effectively digest food.

In addition, there are other feasible therapies for different patients, such as:

Oral or inhaled antibiotics daily to prevent lung infections

Receiving inhaled anti-asthma treatment

Using corticosteroid tablets

Reduces the viscosity of saliva with a drug called pulmozyme

Medications to improve constipation or make enzyme supplements more active

Insulin for diabetics with cystic fibrosis

Treatment of liver disease caused by cystic fibrosis with medication

Provide patients with sufficient oxygen to help breathe

Helping men with cystic fibrosis overcome infertility

Diagnosis and tracking of cystic fibrosis

Methods for diagnosing cystic fibrosis include tests for neonatal testing, sweat sodium chloride electrolyte concentration, and genetic testing. At present in the United States, 10% of patients are diagnosed with cystic fibrosis during a newborn test performed immediately after birth. In these infants, the body has consistent trypsin levels that are too high. test result. Because the test for cystic fibrosis is not part of the routine neonatal test in many places, most patients don't see it until they see a doctor. When testing non-newborns, the most commonly used test method is the sweat test method; the subject will be connected to the electrode to connect to the test device and be stimulated to sweat. This process is called iontophoresis, The tester will test the sweat and sodium content of the collected subject's sweat, and the excessively high sodium and chloride content in the sweat indicates that the subject has cystic fibrosis. In addition to sweat testing, genetic testing can also be diagnosed by confirming whether there is a mutation in the CFTR gene.

Many different tests can test and track the development of complications of cystic fibrosis. For example, X-rays and computer tomography can be used to check the lungs for any tissue damage or infection. Saliva tests can tell the bacteria Spirometry measures lung function, blood tests can tell about liver function, vitamin deficiency, and diabetes, and dual energy X-ray absorptiometry (DEXA scans) can test osteoporosis, A stool test can help diagnose digestive enzyme deficiency.

Pre-production diagnosis

Couples who are pregnant or about to become pregnant can test the CFTR gene for mutations to determine the chance of the fetus getting cystic fibrosis. If the results of one or two couples are high-risk groups, then test the baby CFTR gene. Although prenatal examination can provide information on whether the fetus has cystic fibrosis, but because cystic fibrosis cannot be treated, if the fetus is known to have cystic fibrosis, couples may consider adopting an abortion method.