The result is often:Smelly and heavy chairsPoor weight gainIntestinal obstruction, especially in newborns (Tar obstruction)Severe constipationFrequent tension during the cavity can cause the rectal part – the last part of the large intestine at which the anus is located – to protrude (rectal prolapse). When it occurs in children, it can be a sign of cystic fibrosis .
Parents should consult a specialist. Rectal prolapse in children may sometimes require surgery. Rectal prolapse in children with cystic fibrosis occurs less frequently than in the past, which may be due to prior research, diagnosis and treatment of cystic fibrosis.
The result is dense, sticky mucus in the respiratory
When is the best time to seek medical advice?If you or your child have symptoms of cystic fibrosis – or if someone in your family has cystic fibrosis – talk to your doctor about getting tested for the disease.If you or your child have difficulty breathing, see a doctor immediately.causesIn cystic fibrosis, a defect (mutation) in a gene alters a protein that regulates the flow of salt into and out of cells. The result is dense, sticky mucus in the respiratory, digestive and reproductive systems, as well as an increased amount of salt when sweating.
Many different defects can occur in the gene. The type of gene mutation is linked to the severity of the disease. Children must inherit a copy of the gene from each parent to become ill. If children inherit one copy, they will not develop cystic fibrosis. However, they will be carriers and eventually pass the gene on to their own children.Risk factorsFamily history Because cystic fibrosis is an inherited disease, it occurs in families.Race. Although cystic fibrosis occurs in all races, it is most common in Caucasians of ancestral origin in Northern Europe.
Respiratory complications. Damaged airways (bronchiectasis). Cystic fibrosis is one of the main causes of bronchiectasis, a disease that causes damage to the airways. This impedes the introduction and excretion of air from the lungs and the removal of mucus from the airways (bronchi).Chronic infections . The dense mucus in the lungs and sinuses is an ideal medium for bacteria and fungi. People with cystic fibrosis can often have sinus infections, bronchitis or pneumonia.Nasal enlargement (nasal polyps).
People with cystic fibrosis can often have sinus infection
Because the lining inside the nose is inflamed and swollen, a soft, fleshy growth (polyps) may develop.Coughing with blood (haemoptysis) . Over time, cystic fibrosis can cause the walls of the airways to thin. As a result, adolescents and adults with cystic fibrosis may cough up blood.Pneumothorax . This condition, in which air accumulates in the space separating the lungs from the chest wall, is also more common in older people with cystic fibrosis. Pneumothorax can cause chest pain and suffocation.Respiratory failure.
Over time, cystic fibrosis can damage lung tissue so much that it stops working. Lung function usually deteriorates gradually and can eventually become a serious hazard that can even lead to death.Acute exacerbations . People with cystic fibrosis may experience worsening respiratory symptoms, such as coughing and difficulty breathing, for several days to several weeks. It’s called acute exacerbation and requires hospital treatment.Gastrointestinal complicationsNutritional deficiency. The dense mucus can block the tubes that carry digestive enzymes from the pancreas to the intestines. Without these enzymes, the body cannot absorb fat-soluble proteins, fats or vitamins.Diabetes.
About 30 percent of people with cystic fibrosis develop diabetes
The pancreas produces insulin from which the body needs to consume sugar. Cystic fibrosis increases the risk of diabetes. About 30 percent of people with cystic fibrosis develop diabetes by the age of 30.Blocked bile duct . The catheter, which carries the gallbladder from the liver and gallbladder to the small intestine, can become blocked and inflamed, leading to liver problems and sometimes gallstones.Bowel obstruction.
Bowel obstruction can occur in people with cystic fibrosis at any age. Children and adults with cystic fibrosis are more likely than infants to have intussusception, a condition in which a section of the intestine folds like an accordion.Distal bowel obstruction syndrome (DIOS) . DIOS is a partial or complete obstruction in which the small intestine comes into contact with the large intestine.Reproductive system complicationsAlmost all men with cystic fibrosis are infertile because the tube connecting the testicles and the prostate gland (the semen) is blocked with mucus or completely missing. Some fertility treatments and surgical procedures sometimes allow men with cystic fibrosis to become biological fathers.
Although women with cystic fibrosis may be less fertile than other women, they can get pregnant and have a successful pregnancy. However, pregnancy can worsen the symptoms of cystic fibrosis , so discuss the possible risks with your doctor. Other complications Bone thinning (osteoporosis ). People with cystic fibrosis have a higher risk of developing dangerous bone thinning.Electrolyte imbalance and dehydration. Because people with cystic fibrosis sweat more Saltire, the balance of minerals in the blood can be disturbed. Signs and symptoms include fast heart rate, fatigue, weakness and low blood pressure.
General information and recommendations on the performance of the genetic testCystic fibrosis or cystic fibrosis is the most common monogeneous disease, with a frequency of 1: 2,500-3,500 newborns in the Caucasian population.
Mutations in a gene located on the long arm of chromosome
It is autosomal recessive and characterized by clinical pleiomorphism, with chronic evolution, with an average survival time of 37 years, an age higher in males than in females.The disease is caused by mutations in a gene located on the long arm of chromosome 7 (7q31) that encodes the transmembrane protein CFTR (regulator of cystic fibrosis transbonular conduction), which is part of the ATP-azine protein family and acts as a chlorine channel at the apex of the epithelial cell membrane.
In addition, the protein is also involved in the regulation of sodium channels, participates in the transport of HCO 3 – across epithelial cell membranes, and may act as a channel for other proteins, such as glutathione. Recent proteomic studies have shown that CFTR interacts with many intracellular proteins, but the pathophysiological significance of these interactions has not yet been fully explained .1After the discovery of a genetic defect in the gene responsible for cystic fibrosis in 1989, a limited number of mutations were thought to be the cause of the disease, but more than 1,500 different mutations have been described to date.