pediatrics
Cystic Fibrosis
Symptoms and Signs of Cystic Fibrosis
Fifty percent of patients not diagnosed through newborn screening present with pulmonary manifestations, often beginning in infancy. Recurrent or chronic infections manifested by cough, sputum production, and wheezing are common. Cough is the most common chronic symptom, often accompanied by sputum production, vomiting, and disturbed sleep. Intercostal retractions, use of accessory muscles of respiration, a barrel-chest deformity, digital clubbing, cyanosis, and a declining tolerance for exercise occur with disease progression. Upper respiratory tract involvement includes nasal polyposis and chronic or recurrent rhinosinusitis. Pulmonary complications include Symptoms and Signs , Meconium Ileus due to obstruction of the ileum by viscid meconium may be the earliest sign and is present in about 10 to 20% of CF-affected neonates. It typically manifests with abdominal distention, vomiting, and failure to pass meconium. Some infants have intestinal perforation, with signs of peritonitis and shock. Infants with In infants without meconium ileus, disease onset may be heralded by a delay in regaining birth weight and inadequate weight gain at 4 to 6 weeks of age. Occasionally, infants who are undernourished, especially if on hypoallergenic formula or soy formula, present with generalized edema secondary to protein malabsorption. Pancreatic insufficiency is usually clinically apparent early in life and may be progressive. Manifestations include the frequent passage of bulky, foul-smelling, oily stools; abdominal protuberance; and poor growth pattern with decreased subcutaneous tissue and muscle mass despite a normal or voracious appetite. Clinical manifestations may occur secondary to deficiency of fat-soluble vitamins. Rectal prolapse may occur in untreated infants and toddlers. Gastroesophageal reflux is relatively common among children and adults. Excessive sweating in hot weather or with fever may lead to episodes of hyponatremic/hypochloremic dehydration and circulatory failure. In arid climates, infants may present with chronic Metabolic Alkalosis . Salt crystal formation and a salty taste on the skin are highly suggestive of CF. Adolescents may have retarded growth and delayed onset of puberty. 