Cystic Fibrosis: Diagnosis, Treatment and a Team Approach

First published November 2017
Updated December 2025

When most people hear “cystic fibrosis” (CF), they think of a lung disease, if they have heard of it at all. While CF is a pulmonary disease, it also impacts other parts of the body. In fact, CF was first recognized as a gastrointestinal (GI) disease since children often became very ill with abdominal symptoms before lung problems could be detected.

Today, advances in treatment have improved survival, and the connection between CF and lung disease is widely known. Still, nutrition and GI issues remain an important part of the disease.

What is Cystic Fibrosis?

CF is an inherited disease affecting both males and females across all racial and ethnic groups, though it is most common in individuals of northern European descent. It is a life-long, progressive disease caused by a defect in a channel that controls salt and water balance in the body. As a result, thick, sticky mucus can build up in many organs.

CF can affect:

• Lungs and sinuses, causing coughing, wheezing, infections, and difficulty breathing
• Pancreas and intestines, leading to belly pain, constipation and difficulty digesting food
• Liver and gallbladder, sometimes causing liver disease
• Reproductive system, which can impact fertility
• Growth and nutrition, as children may struggle to gain weight or grow normally

How is CF Diagnosed?

CF can be diagnosed through a screening process at birth known as the newborn screen. If the screening result is abnormal, a sweat chloride test is performed. This test measures the amount of salt in a baby’s sweat. Other tests that may be used in diagnosis or ongoing care include:

• GI tests to check digestion
• Chest X-rays and lung function tests
• Respiratory cultures
• Genetic (DNA) testing

While most children are diagnosed at birth, some may not show symptoms until later. If a child has a chronic breathing problem, GI issues or frequent sinus infections, it is important to talk with a pediatrician about testing for CF.

Caring for CF

Parents and caregivers play a vital role in helping children with CF stay healthy. Daily care routines can make a big difference. These may include:

• Chest physiotherapy (CPT): Special technique to help clear mucus from the lungs.
• Breathing treatments: Aerosol medications to open airways and prevent infections.
• Highly Effective Modulator Therapy: These new medicines help fix the broken channel and make mucus less thick and sticky. But they only work for some people with CF, depending on their gene mutations.
• Antibiotics: Can be given even for mild symptoms, to prevent illness from worsening.
• Avoiding smoke exposure: Keeping children away from cigarette and e-cigarette smoke.
• Hospital care: At times, IV antibiotics or inpatient care may be necessary.
• Proper nutrition: Children with CF often require extra calories or nutritional support to grow

Team Based Care

CF is best managed with a team approach including the patient, family, CF nurses and pediatric pulmonologists who work together with a team of specialists. Depending on your child’s needs, this team may include a gastroenterologist, endocrinologist, ENT specialist, respiratory therapist, dietitian, pharmacist, psychologist, child life specialist, social worker, research coordinators, and more. This collaborative approach helps streamline appointments and ensures that every part of your child’s health is supported.

Advances in CF Treatment

While many people think CF is a childhood disease, because of research and improved clinical care, more children with CF are living longer lives. We have reached an incredible juncture in CF where there are as many adults living with CF as children, a true testament to the hard work of CF families, clinical teams, and researchers across the country.