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Pulmonary, Critical Care and Sleep Medicine

Cystic Fibrosis

Lungs with Cystic Fibrosis

Cystic Fibrosis (CF) is an inherited disease that affects the lungs and digestive system of about 30,000 children and adults in the United States (70,000 worldwide). A defective gene and its protein product cause the body to produce unusually thick, sticky mucus that: clogs the lungs and leads to life-threatening lung infections; and obstructs the pancreas and stops natural enzymes from helping the body to break down and absorb food. People with CF tend to have a lot of sinus problems.

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Symptoms

People with CF can have a variety of symptoms including:

  • Very salty-tasting skin
  • Persistent coughing (at times with phlegm)
  • Frequent lung infections
  • Wheezing
  • Shortness of breath
  • Poor growth/weight gain in spite of a good appetite
  • Frequent greasy bulky stools
  • Difficulty in bowel movements
  • Sinus issues
Diagnosis
Most people are diagnosed with CF at birth or before age two. A doctor who sees signs and symptoms will order either a sweat test or a genetic test to confirm the diagnosis.

A sweat test is the most common test used to diagnose cystic fibrosis. A small electrode is placed on the skin (usually on the arm) to stimulate the sweat glands. Sweat is then collected and the amount of chloride, a component of salt in the sweat, is measured.

In a genetic test, a blood sample or cells from the inside of the cheek is taken and sent to a laboratory to see if any of the various mutations of the CF gene are found. A genetic test is often used if the results from a sweat test are unclear.

 Providers

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Stephanie Chadsey Zanowski, PhD

Assistant Professor

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Rose Franco, MD

Associate Professor

Pat Pfahler, RN, BSN
Adult Cystic Fibrosis Coordinator

Julie Siegel, MSW
Master's of Social Work

Patricia Dummer, RRT
Registered Respiratory Therapist

Michelle McDonagh, RD, CD
Registered Dietician