The condition is based on a genetic abnormality that induces a disorder of secretion and reabsorption of chloride at the cellular level.
Gender distribution is fairly similar.
Disease manifests multisystemic with involving the exocrine organs (respiratory, digestive and reproductive tract of male) which makes the clinical picture of this condition to be complex.
Classic triad: chronic pulmonary disease, pancreatic insufficiency and sweat electrolytic hiperconcentration is seen in most cases. Consecutive is associated with growth failure.
Pancreatic and intestinal secretion abnormalities are responsible for a range of clinical manifestations, as follows:
– Maldigestion of lipoproteins secondary to pancreatic insufficiency is translated in many stools, bulky, with steatorrhea (presence of abnormal amounts of fat in stool), fetid (unpleasant smell, hard repulsive), the child will suffer failure of growth, with progressive denutrition, with relaxed abdomen, flaccid muscles, edema;
– Meconium ileus – is a life-threatening complication. The meconium (first bowel materials that baby they expel in the first days after birth and have a characteristic appearance: brown-green, soft-pasty consistency) viscous, appearance of pitch, can reach the intestinal lumen obstruction with the possibility of perforation and peritonitis;
– Late ileus – can occur in children with mucoviscidosis past 4 years, which does not comply with diet and are not taking enzyme replacement therapy. Is due to a progressive obstruction by a mucous-fecal dense containing and adhering to the intestinal wall;
– Recurrent abdomen pain – abdominal pain are common symptoms in cystic fibrosis.
Respiratory symptoms is finally establishing the prognosis.
Coughing is a major sign. It’s early, persistent, debilitating and resistant to sedative. Initially dry, subsequently become productive, chronic, causes vomiting especially morning.
Other respiratory symptoms that characterize this condition are polipnea (fast and shallow breathing), dyspnea (difficulty breathing), wheezing (wheezing). Cyanosis can occur (bluish coloration of the skin) generalized or localized, chronic pulmonary heart (clinically characterized by swelling, orthopnoea, tachycardia). In the late phase, as a sign of poor prognosis serious complications can occur: hemoptysis (coughing blood), pneumothorax (accumulation of air in the pleural space), lung abscess, fibrosis.
Hepatobiliary manifestations can be translated clinically in the newborn period, with a prolonged jaundice.
The damage of sweat glands translates into the formation of small crystals by evaporating sweat on the skin, salty taste of sweat, heat shock in the warm periods of the year.
Cystic fibrosis, during evolution, may lead to cardiac pain, diabetes mellitus, impaired reproduction.
Confirmation of diagnosis should be made to the lowest clinical suspicion. This confirmation is done via a simple and pathognomonic diagnostic test which consists of dosing chloride in sweat.
The test is considered positive at concentrations of chloride over 70 mEq / l. Below 50 mEq / l is considered normal and if between the limits the case remains suspect.
Other laboratory investigations like chest X-ray, electrocardiogram, blood tests and liver tests, exam of the stool come in support of complications diagnosis.
Given the fact that cystic fibrosis is a disorder with hereditary character, performing genome for couples that will have children helps determine which parent carries the gene that causes cystic fibrosis (mucoviscidosis gene is located on chromosome 7).
Treatment of cystic fibrosis includes treatment of the digestive syndrome, respiratory syndrome and treatment of secondary syndromes.
Treatment of digestive syndrome depends on clinical manifestations :
– Meconium ileus – enemas or surgical treatment;
– Chronic diarrhea – enzyme replacement therapy (pancreatic enzymes) – low-fat diet rich in protein, carbohydrates, vitamins, minerals, additional salt in warm periods;
Treatment of respiratory syndrome includes:
– General antibiotics;
– Antifungal treatment;
– Inhalation therapy – mucolytics substances (N-acetylcistein);
– Nebulized therapy in the tent;
– Bronchial aspiration and lavage;
– Kinesiology – chest percussion, respiratory gymnastics;
Treatment of secondary syndromes include heart tonic drugs, oxygen.
The prognosis of this condition is much improved thanks to the precocity of diagnosis and prophylactic treatment.