Cystic Fibrosis

Published on 10/06/2015 by admin

Filed under Pediatrics

Last modified 10/06/2015

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Cystic Fibrosis

Barbara A. Chini, MD

Basic Information

Definition

Cystic fibrosis (CF) is an inherited, multisystem disease of exocrine gland function that is primarily characterized by diffuse obstruction and chronic infection of the airways and poor digestion resulting from exocrine pancreatic insufficiency. Although multiple organ systems are affected, progressive lung destruction (i.e., bronchiectasis) is the major cause of morbidity and mortality in those affected with CF.

Synonym

Mucoviscidosis

ICD-9-CM Codes

277.00 Cystic fibrosis, pancreatic
518.89 Cystic fibrosis, pulmonary

Epidemiology & Demographics

• One of the most common fatal genetic disorders among whites
• Autosomal recessive inheritance
• Estimated incidence: 1 case per 3200 whites; 1 case per 15,000 blacks; 1 case per 11,000 Native Americans; 1 case per 31,000 Asian Americans; 1 case per 9500 Hispanics
• Carrier frequency: 1 in 32 overall in the United States

Clinical Presentation

History

• A family history of CF may be reported (16%).
• Multiple organ systems are affected, most commonly the sweat ducts, pancreas, and airways.
• CF most often manifests in early childhood with persistent respiratory illness (50%), malnutrition and poor growth (34%), abnormal stools (26%), or a combination of these features.
• Signs and symptoms may vary widely by age:

image Neonate: meconium ileus or peritonitis (15%)
image Infancy: obstructive jaundice, hypochloremic alkalosis, hyponatremic dehydration, heat prostration, steatorrhea, hypoproteinemia, edema, salty taste
image Infancy and childhood: failure to thrive, bronchiolitis, recurrent wheezing
image Childhood and older: rectal prolapse, nasal polyposis, panopacification of sinuses, pancreatitis, unexplained cirrhosis, gallstones, allergic bronchopulmonary aspergillosis
image Adolescence and adulthood: cor pulmonale, glucose intolerance, diabetes mellitus, biliary cirrhosis, hemoptysis
image Any age: absence of the vas deferens, azoospermia, recurrent pneumonia or wheezing, chronic cough (often productive), staphylococcal pneumonia, mucoid pseudomonas in lung, bronchiectasis, digital clubbing

Physical Examination

• Respiratory system

image Chronic productive cough
image Recurrent or persistent crackles or wheezing
image Diminished breath sounds
image Barrel chest deformity, hyperinflation
image Use of accessory muscles of respiration; tachypnea
image Chronic sinusitis, nasal polyps, widening of the nasal bridge

• Gastrointestinal system

image Poor weight gain
image Rectal prolapse
image Abdominal distention
image Loss of subcutaneous fat and muscle
image Edema, hepatomegaly

• Reproductive system

image Absence or atresia of vas deferens
image Testicular hernia, hydrocele, undescended testes
image Delayed puberty

• Skeletal system

image Hypertrophic osteoarthropathy
image Digital clubbing

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