Symptoms of cystic fibrosis

In most patients, the first symptoms of cystic fibrosis become noticeable in the first year of life, with the disease manifesting itself in 60% of cases before 6 months. In the neonatal period, cystic fibrosis is accompanied by signs of intestinal obstruction (meconium ileus), in some cases peritonitis associated with perforation of the intestinal wall. Up to 70-80% of children with meconium ileus have cystic fibrosis. Prolonged neonatal jaundice, found in 50% of patients with meconium ileus, can also be the first clinical sign of cystic fibrosis.

The following typical symptoms of cystic fibrosis are observed in infants:

• recurrent or chronic respiratory symptoms (cough or shortness of breath);
• recurrent or chronic pneumonia;
• delay in physical development;
• loose, profuse, oily and foul-smelling stools;
• chronic diarrhea;
• prolapse of the rectal mucosa;
• prolonged neonatal jaundice;
• "saltiness" of the skin;
• dehydration in hot weather (even to the point of heat stroke);
• chronic hypoelectrolytemia;
• family history of death in children during the first year of life or the presence of siblings with similar clinical symptoms;
• hypoproteinemia, edema.

In older children, delayed physical development, foul-smelling fatty stools, frequent bacterial respiratory infections, and signs of cholestasis are noted.

Symptoms of cystic fibrosis depend on the degree of damage to various organs and systems and include symptoms of damage to the bronchopulmonary and hepatobiliary systems, pancreas and gastrointestinal tract, as well as impaired reproductive function and sweating.

Main symptoms of cystic fibrosis

In children of the first year of life	In preschool children	In school-age children	In adolescents and adults
Recurrent or persistent cough (shortness of breath)	Persistent cough, possibly with purulent sputum	Symptoms of chronic lower respiratory tract infection of unknown etiology	Frequent purulent-inflammatory diseases of the lungs of unknown etiology
Recurrent pneumonia	Recurrent or persistent dyspnea of unknown etiology	Chronic rhinosinusitis	"Drumstick-like thickening of the terminal phalanges of the fingers"
Delay in physical development	Underweight, growth retardation	Nasal polyposis	Pancreatitis
Unformed, profuse, oily and foul-smelling stools	Rectal prolapse	Bronchiectasis	Distal small bowel obstruction
Chronic diarrhea	Intussusception	"Drumstick-like thickening of the terminal phalanges of the fingers"	Signs of liver cirrhosis and portal hypertension
Rectal prolapse	Chronic diarrhea	Chronic diarrhea	Growth retardation
Prolonged neonatal jaundice	"Drumstick-like thickening of the terminal phalanges of the fingers"	Distal small bowel obstruction	Delayed sexual development
Salty taste of skin	Salt crystals on the skin	Pancreatitis	Sterility and azoospermia in men (97%)
Chronic hyponatremia and hypochloremia	Hyponatremia, hypochloremia and metabolic alkalosis	Hepatomegaly or liver dysfunction of unknown etiology
Hypoproteinemia (edema)	Hepatomegaly or liver dysfunction of unknown etiology
Heat stroke or signs of dehydration in high temperature conditions	Hypotonic dehydration	Rectal prolapse	Decreased fertility in women (<50%)

Any of the above symptoms may appear in the clinical picture of the disease at any age (there are atypical cases of the "drumsticks" symptom and liver disease in the first years of life). The first symptoms of cystic fibrosis in most patients occur in the first year of life, although cases of late (up to adulthood) clinical manifestation of the disease have been described. The presence of certain symptoms of cystic fibrosis in the overall picture of the disease largely depends on the type of mutation (or mutations). The most common deletion is F 508, in which clinical signs of cystic fibrosis appear at an early age, and in 90% of cases pancreatic insufficiency develops.

In the neonatal period, patients with cystic fibrosis most often show:

• meconium ileus - occurs in 20% of newborns with cystic fibrosis, sometimes complicated by meconium peritonitis associated with perforation of the intestinal wall (up to 70-80% of children with meconium ileus have cystic fibrosis);
• Prolonged neonatal jaundice - occurs in 50% of patients with meconium ileus.

Most infants with cystic fibrosis experience a combination of recurrent or persistent cough, bowel habits, and failure to thrive, with one symptom being more pronounced than the others.

• The cough, initially dry and rare, and then progressing to frequent and unproductive, sometimes provoking vomiting, becomes chronic. In some cases, coughing fits resemble those of whooping cough. Often, coughing fits first appear against the background of an upper respiratory tract infection, but then do not disappear, but gradually progress in severity and frequency.
• Frequent, large, foul-smelling, oily stools containing undigested food residues are typical of patients with cystic fibrosis. The stools are difficult to wash off the potty or diapers, and may contain visible admixtures of fat.
• In some cases, failure to thrive may be the only symptom of the disease.
• Rectal prolapse becomes the first clinical manifestation of cystic fibrosis in 5-10% of patients. In the absence of appropriate treatment, rectal prolapse occurs in 25% of patients with cystic fibrosis, most often at the age of 1-2 years. In children over 5 years of age, this symptom occurs much less frequently. Coughing attacks against the background of:
  • altered stool;
  • delays in physical development;
  • weakened muscle tone;
  • intestinal bloating;
  • episodic constipation.

In preschool age, cystic fibrosis manifests relatively rarely, in school age - even more rarely. Such a late diagnosis is most often associated with the presence of "soft" mutations in the patient, which cause the preservation of pancreatic functions for a long time. In adolescence and adulthood, especially in the absence of any symptoms of the disease in the anamnesis, cystic fibrosis manifests extremely rarely and, as a rule, proceeds without typical symptoms in the clinical picture.

One of the main tasks in the treatment of cystic fibrosis is to prevent or minimize the number of exacerbations of the chronic infectious and inflammatory process in the bronchopulmonary system. To ensure adequate and timely treatment, it is necessary to monitor the appearance of characteristic symptoms of exacerbation, which include:

• change in the nature of the cough;
• the appearance of cough at night;
• an increase in the amount of sputum and a change in its character;
• increasing shortness of breath;
• the appearance of fever;
• increased heart rate;
• loss of appetite;
• weight loss;
• decreased tolerance to physical activity;
• cyanosis;
• deterioration of the auscultatory and radiological picture in the lungs;
• deterioration of FVD parameters.

Complications of cystic fibrosis

• Hemolytic anemia in newborns and neurological disorders in older children resulting from vitamin E deficiency.
• Obstruction of the distal small intestine occurs in 2% of children under 5 years of age, in 27% of patients over 30 years of age (7-15% of all patients). In mild cases, patients complain of pain, and an enlarged cecum can be palpated during physical examination. In severe cases, signs of intestinal obstruction appear: pain syndrome, intestinal distension, vomiting, constipation, and the appearance of fluid levels on an abdominal X-ray.
• Nasal polyposis is often combined with cholelithiasis and is virtually asymptomatic.
• Diabetes mellitus occurs in 20% of adult patients with cystic fibrosis. The development of diabetes mellitus can be provoked by the use of glucocorticoid drugs or high-calorie nutrition. Symptoms of the disease manifestation are typical for diabetes mellitus - the patient suffers from thirst, polyuria, polydipsia, weight loss. Ketoacidosis in patients with cystic fibrosis and diabetes mellitus develops relatively rarely.
• Liver fibrosis of varying severity is found in all patients with cystic fibrosis. In 5-10% of cases, liver fibrosis leads to the formation of biliary cirrhosis and portal hypertension.

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