Symptoms of cystic fibrosis

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

Infants have the following typical symptoms of cystic fibrosis:

• recurrent or chronic respiratory symptoms (cough or shortness of breath);
• recurrent or chronic pneumonia;
• lag in physical development;
• unformed, plentiful, oily and fetid stool;
• chronic diarrhea;
• prolapse of the rectal mucosa;
• prolonged neonatal jaundice;
• "Salinity" of the skin;
• dehydration in hot weather (up to a heat stroke);
• chronic hypoelectrolimy;
• family history data on the death of children in their first year of life or the presence of siblings with similar clinical symptoms;
• hypoproteinemia, edema.

At an older age, a delay in physical development is noted, a stinking fatty stool, frequent bacterial infections of the respiratory tract, signs of cholestasis.

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.

The main symptoms of cystic fibrosis

Children of the first year of life	In preschool children	In school-age children	Adolescents and adults
Recurrent or persistent cough (shortness of breath)	Persistent cough, possibly with purulent sputum	Symptoms of chronic lower respiratory tract infection of unclear etiology	Frequent purulent-inflammatory diseases of mild etiology
Recurrent pneumonia	Recurrent or persistent dyspnoea of unclear etiology	Chronic rhinosinusitis	Thickening of terminal phalanges of fingers by the type of tympanic sticks »
The lag in physical development	Deficiency of body weight, lag in growth	Polyposis of the nose	Pancreatitis
Unformed copious oily and stenchy stool	Rectal prolapse	Bronchiectases	Obstruction of the distal small intestine
Chronic diarrhea	Invagination of the intestine	Thickening of terminal phalanges of fingers by the type of tympanic sticks »	Signs of cirrhosis and portal hypertension
Rectal prolapse	Chronic diarrhea	Chronic diarrhea	Growth lag
Prolonged neonatal jaundice	Thickening of terminal phalanges of fingers by the type of tympanic sticks »	Obstruction of the distal small intestine	Delayed sexual development
Salty skin taste	Salt crystals on the skin	Pancreatitis	Sterility and azoospermia in men (97%)
Chronic hyponagraemia and hypochloraemia	Hyponatremia, hypochloraemia and metabolic alkalosis	Hepatomegaly or impaired liver function of unknown etiology
Hypoproteinemia (edema)	Hepatomegaly or impaired liver function of unknown etiology
Heat shock or signs of dehydration in high temperature air	Hypotonic dehydration	Rectal prolapse	Reduction of fertility in women (<50%)

Any of these symptoms can appear in the clinical picture of the disease at any age (there are known atypical cases of the appearance of the symptom of "drumsticks" and liver diseases in the early years of life). The first symptoms of cystic fibrosis in most patients occur already in the first year of life, although cases of late (up to adulthood) clinical manifestation of the disease are 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 pancreatic insufficiency develops in 90% of cases.

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

• meconial 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 meconial ileus are infected with cystic fibrosis);
• prolonged neonatal jaundice - occurs in 50% of patients with meconial ileus.

For most infants with cystic fibrosis, a combination of recurrent or persistent cough, stool disorders and physical development lag is characteristic. In this case, one of the symptoms can be expressed more strongly than others.

• Cough, initially dry and rare, and subsequently progressing to frequent and unproductive, sometimes provoking vomiting, becomes chronic. In some cases, coughing attacks resemble those in whooping cough. Often for the first time attacks of a cough appear against a background of an infection of the upper respiratory tract, but in the future they do not disappear, but gradually progress in severity and frequency.
• A frequent, plentiful, fetid, oily stool containing undigested remnants of food is characteristic of patients with cystic fibrosis. Feces are difficult to remove from the pot or diaper, they may have visible fat admixtures.
• The lag in physical development in some cases 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, prolapse of the rectum occurs in 25% of patients with cystic fibrosis, more often at the age of 1-2 years. In children older than 5 years, this symptom is much less common. To a prolapse of a rectum predispose attacks of a cough against a background:
  • altered stool;
  • lag in physical development;
  • weakened muscle tone;
  • swelling of the intestine;
  • episodic constipation.

In pre-school age, cystic fibrosis manifests relatively rarely, at school age - even less. This late diagnosis is most often associated with the presence of "soft" mutations in the patient, which cause the preservation of pancreas functions for a long time. In adolescence and adulthood, especially in the absence of any symptom of the disease in history, cystic fibrosis manifests extremely rarely and, as a rule, occurs without the typical symptoms in the clinical picture.

One of the main tasks in the treatment of cystic fibrosis is the prevention or minimization of the number of exacerbations of a 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 sputum and a change in her character;
• an increase in dyspnea;
• the appearance of fever;
• increased heart rate;
• deterioration of appetite;
• decreased body weight;
• decrease in exercise tolerance;
• cyanosis;
• deterioration of auscultatory and radiologic pattern in the lungs;
• deterioration of FVD.

Complications of cystic fibrosis

• Hemolytic anemia in newborns and neurological disorders in older children, developing as a result of a lack of vitamin E.
• Obstruction of the distal parts of the small intestine occurs in 2% of children under 5 years of age, in 27% of patients older than 30 years (7-15% of all patients). With a light course, patients complain of pain, and with a physical examination they can palpate an enlarged blind colon. With severe obstruction, signs of intestinal obstruction appear: pain syndrome, swelling of the intestine, vomiting, constipation and the appearance of fluid levels in the survey radiograph of the abdominal cavity.
• Nasal polyposis often combines with cholelithiasis and proceeds almost asymptomatically.
• Diabetes mellitus occurs in 20% of adult patients with cystic fibrosis. The development of diabetes mellitus can be triggered by the use of glucocorticoid drugs or high-calorie diet. Symptoms of the disease manifest are typical for diabetes mellitus - the patient is thirsty, polyuria, polydipsia, weight loss. Ketoacidosis in patients with cystic fibrosis and diabetes mellitus is relatively rare.
• 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.

[1], [2], [3], [4], [5]