Clinically, it is characterized by recurrent contractions, the presence of a palpable tumor in the abdomen, and signs of complete or partial intestinal obstruction. 50% of these patients suffer complications such as peritonitis, torsion, overgrowth, necrosis, perforation, or pseudo-cyst formation.
A mucous appendectomy can be observed as an asymptomatic palpable tumor in the lower quadrant of the abdomen .Due to an increase in abdominal pressure as a result of coughing, rectal prolapse is common in these patients. Fibrous colonopathy is a unit characterized by constriction of the ascending colon that was originally described in 1994 and is characteristic of cystic fibrosis.
Clinical signs include steatorrhea, abdominal distension
High doses of pancreatic enzymes, especially lipases, affect the etiology of the disease. Initial symptoms are similar to those of obstructive syndrome, and diagnosis is established after a barium transition.
The incidence of cancers of the gastrointestinal tract (oesophagus, stomach, intestine, liver, biliary tract, pancreas and retroperitoneal space) increases in patients with cystic fibrosis, with the most common location of cancer being the colon.
Exocrine pancreatic insufficiency (caused by obstruction of the pancreatic ducts with secretions, the appearance of enzymatic self-destruct and ultimately interstitial fibrosis) accompanied by malabsorption syndrome occurs from birth in the vast majority of people diagnosed with cystic fibrosis, with the exception of those with certain CFTR mutations and do not require pancreatic enzymes.
However, they may develop acute or recurrent pancreatitis. Clinical signs include steatorrhea, abdominal distension, abdominal pain, bloating, growth slowing (due to malabsorption syndrome and haemolytic anaemia), clotting disorders or rashes associated with a deficiency of fat-soluble vitamins (A, D, E and K) and zinc…
People with cystic fibrosis and normal pancreatic function
Pancreatic enzymes are recommended in these patients. People with cystic fibrosis and normal pancreatic function have a milder clinical course with a higher average survival rate (56 years) than those with pancreatic failure.In children, vitamin, electrolyte and protein deficiency is manifested by: protruding fountains; haemolytic anaemia due to vitamin E deficiency; haemorrhagic complications which may result from vitamin K deficiency due to liver failure or malabsorption;
Hypoproteinaemia and oedema; hepatomegaly accompanied by increased levels of liver enzymes; enteropathic acrodermia, constipation, hyponatremic / hypochloremic dehydration and salty skin, hypokalemic metabolic alkalosis secondary to chronic salt loss.Patients with cystic fibrosis often have a reduced glucose tolerance (40% on average).
Diabetes mellitus associated with cystic fibrosis (DZAMV) manifests during adolescence (through ketoacidosis and ketonuria), diagnosed in 7% of patients aged 11-17 years, with increased frequency in adulthood. It is more common in homozygotes of ozF508 and females. DZAMV is a distinct unit from Type 1 or type 2 diabetes, but has features common to both types. The etiology is a combination of low insulin secretion (secondary to pancreatic fibrosis and low number of islet cells) and peripheral insulin resistance.
This type of diabetes is associated with poorer lung function, poorer nutritional status and shorter survival times.As these patients ‘survival has increased, liver and biliary diseases associated with cystic fibrosis have become a serious and common complication that can affect patients’ quality of life. Liver and bile duct involvement is clinically evident after the first 10 years of life.The lack of a functional CFTR protein in epithelial cells lining the bile ducts causes the formation of a sticky secretion that clogs the ducts. If this process is prolonged, obstructive cirrhosis of the liver can be complicated by oesophageal varicose veins, spleen enlargement and hypersplenism.
The lack of a functional CFTR protein
Newborns with cystic fibrosis may have prolonged obstructive jaundice due to intra – and exteriors of bile.Gallstones are more common in patients with cystic fibrosis (15% of young adults with cystic fibrosis) than in healthy people.Liver disease is the second most common cause of death after lung disease in cystic fibrosis 2; 3; 5; 6 .Fertility . More than 95% of men with cystic fibrosis are infertile due to bilateral congenital lack of sperm and less often due to obstructive azoospermia. The body, epididymis tail and seminal vesicles may be abnormally dilated or even absent. Only 1% of patients with cystic fibrosis are fertile, with mild forms of the disease. Spermatogenesis is normal in these males.
Women with cystic fibrosis are fertile, although a few (20%) may have abnormal cervical mucus that contributes to infertility.As survival of people with cystic fibrosis has improved significantly in recent decades, pregnancy of women with cystic fibrosis has become a major concern. There are studies that say pregnancy is going well in these patients, but there are also studies that point to complications.
It is a syndrome characterized by abnormal proliferation of bone
Negative prognostic factors for both the mother and the fetus in the case of pregnancy include a forced CVF of less than 50% of the predicted value and poor nutritional status. In fact, a CVF of less than 50% of the predicted value is an absolute contraindication to pregnancy.
- However, proper treatment of lung diseases, aggressive treatment of infections with a wide range of antibiotics and better nutrition have made pregnancy well tolerated, especially in women with mild to moderate forms. In these cases, the risk factors for health deterioration and premature death after pregnancy are the same as for the non-pregnant population.
- In a recent study, Goss et al. They took into account FEV (forced exhaust volume), body weight, height and frequency of pulmonary exacerbations over a year and found that pregnancy was not associated with an increased risk of death.
- In fact, pregnancy does not appear to pose an additional risk to subgroups of women with diabetes or FEV values less than 40% of the predicted value.
Important prognostic factors during pregnancy are the severity of the mother’s lung failure and nutritional status, meaning that their deterioration can accelerate premature birth. Despite all efforts, the live birth rate for women with cystic fibrosis between the ages of 13 and 45 is 1.9%.The risk of congenital foetal malformations is not increased and breastfeeding is not contraindicated 2; 3; 6 .Osteoarthritis.
Hypertrophic osteoarthropathy affects more than 6% of patients, less frequently in young children and more frequently in Men (2: 1). It is a syndrome characterized by abnormal proliferation of bone tissue in the distal extremities of the long bones with symptoms of hypoconsitis, pain or swelling of the joints, usually symmetrical, and periosteum inflammation.Arthropathy in cystic fibrosis occurs in 10% of patients and can occur at any point in evolution.