Respiratory Tract.Cough is the most constant symptom of pulmonary involvement. At first, the cough may be dry and hacking, but eventually it becomes loose and productive. In older patients, the cough is most prominent on arising in the morning or after activity. Expectorated mucus is usually purulent. Some patients remain asymptomatic for long periods or seem to have prolonged but intermittent acute respiratory infections. Others acquire a chronic cough in the 1st weeks of life, or they have pneumonia repeatedly.
Extensive bronchiolitis is attended by wheezing, which is a frequent symptom during the 1st years of life. As lung disease slowly progresses, exercise intolerance, shortness of breath, and failure to gain weight or grow are noted. Exacerbations of lung symptoms, presumably owing to more active airways infection, eventually require repeated hospitalizations for effective treatment.
Cor pulmonale, respiratory failure, and death eventually supervene unless lung transplantation is accomplished. Colonization with Burkholderia cepacia and other multidrug-resistant organisms may be associated with particularly rapid pulmonary deterioration and death.
Early physical findings include increased anteroposterior diameter of the chest, generalized hyperresonance, scattered or localized coarse crackles, and digital clubbing. Expiratory wheezes may be heard, especially in young children.
Even though the paranasal sinuses are virtually always opacified radiographically, acute sinusitis is infrequent. Nasal obstruction and rhinorrhea are common, caused by inflamed, swollen mucous membranes or, in some cases, nasal polyposis. Nasal polyps are most troublesome between 5 and 20 yr of age.
Intestinal Tract.
In 15–20% of newborn infants with CF, the ileum is completely obstructed by meconium (meconium ileus).
Meconium plug syndrome occurs with increased frequency in infants with CF but is less specific than meconium ileus. Ileal obstruction with fecal material (distal intestinal obstruction syndrome or meconium ileus equivalent) occurs in older patients, causing cramping abdominal pain and abdominal distention.
More than 85% of affected children show evidence of maldigestion from exocrine pancreatic insufficiency. Symptoms include frequent, bulky, greasy stools and failure to gain weight even when food intake appears to be large. Nearly 40% of patients display nutritional failure by the criterion of weight/height less than the 10th percentile. Characteristically, stools contain readily visible droplets of fat. A protuberant abdomen, decreased muscle mass, poor growth, and delayed maturation are typical physical signs. Excessive flatus may be a problem.
Less common gastrointestinal manifestations include intussusception, fecal impaction of the cecum with an asymptomatic right lower quadrant mass, and epigastric pain owing to duodenal inflammation.
Occasionally, hypoproteinemia with anasarca appears in malnourished infants, especially if children are fed soy-based preparations. Neurologic dysfunction (dementia, peripheral neuropathy) and hemolytic anemia may occur because of vitamin E deficiency. Deficiency of other fat-soluble vitamins is occasionally symptomatic. Hypoprothrombinemia owing to vitamin K deficiency may result in a bleeding diathesis. Clinical manifestations of other fat-soluble vitamin deficiencies, such as decreased bone density and night blindness, have been noted.
Biliary Tract.
Evidence for liver dysfunction is most often detected in the 1st 15 yr of life and can be found in up to 30% of individuals. Biliary cirrhosis becomes symptomatic in only 2–3% of patients. Manifestations can include icterus, ascites, hematemesis from esophageal varices, and evidence of hypersplenism.
Pancreas.
In addition to exocrine pancreatic insufficiency, evidence for hyperglycemia and glycosuria including polyuria and weight loss may appear, especially in the 2nd decade of life. Eight percent of 11–17 yr old patients and 18% of 18–24 yr olds have insulin-dependent diabetes.
Genitourinary Tract.
Sexual development is often delayed but only by an average of 2 yr. More than 95% of males are azoospermic because of failure of development of Wolffian duct structures, but sexual function is generally unimpaired. The incidence of inguinal hernia, hydrocele, and undescended testis is higher than expected. Adolescent females may experience secondary amenorrhea, especially with exacerbations of pulmonary disease.The female fertility rate is diminished.
Sweat Glands.
Excessive loss of salt in the sweat predisposes young children to salt depletion episodes, especially during episodes of gastroenteritis and during warm weather. These children present with hypochloremic alkalosis. Frequently, parents notice salt “frosting” of the skin or a salty taste when they kiss the child
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