Signs of Cystic fibrosis

Description

An inherited disease that affects the cells that make mucous, sweat and digestive juices. The disorder causes thick, sticky mucus to build up in the lungs and digestive tract. It is one of the most common chronic lung diseases in children and affects 1 in 3000 people. Early death in a patient's teens was common but with early identification and better treatment many people are living well into adulthood and beyond 50. Most patients die from lung infections and lung failure.

Symptoms

Delayed growth, poor weight gain, abdominal pain, abdominal bloating, nausea, vomiting, no bowel movements in the first days of life, foul smelling fatty stools, excess fat in stool (steatorrhea), cough, increased mucus in the sputum, nasal congestion, wheezing, repeated lung infection, repeated sinus infection.

Tests

A history and physical exam will be performed. Most birthing centers screen for cystic fibrosis at birth. A sweat test can be done to detect the increased saltiness of the skin commonly found. Other tests will be done when appropriate to identify infections, and the damage to the lungs, intestines and sinuses experienced.

Standard Workup

Pulmonary function Test
Sputum culture

Treatment

Early detection and aggressive treatment can significantly extend a patient's life. Treatment includes antibiotics for sinus and lung infections and some patients take these medications all the time to help prevent recurrent infections. Other medications include bronchodilators, and mucus thinning drugs. Nutritional supplements and pancreatic enzymes can help reduce some of the nutritional deficiencies experienced. Chest percussion can help break up the mucus and prevent lung collapse and damage. At times lung transplant and intestinal surgery are required.