囊状纤维症

概述

What is cystic fibrosis?1 2

Cystic fibrosis (CF) is a progressive, genetically-inherited disease impacting the cells that produce mucus, sweat, and digestive juices. Rather than being thin and slippery lubricants, these secreted fluids become sticky and thick because of a defective CF gene. This causes the secretions to obstruct tubes, ducts, and passageways, especially in the lungs and pancreas.

In the lungs, it enables bacteria to stick and multiply more easily, increasing the risk of infection. The lungs become obstructed, making breathing more difficult. In the pancreas, scarring from blocked ducts reduces the absorption of fats and vitamins. Furthermore, blockages in the liver can result in liver disease, and increased mucus in the reproductive tract can cause decreased fertility or infertility in men and women.

How common is cystic fibrosis?1 2 3

CF is most common in Caucasian patients, but it is growing more diverse every year. In 2022, more than 15% of people with CF were identified as a non-Caucasian race. It is anticipated that this trend towards increased diversity will continue.

In the United States alone, there are about 30,000 people with cystic fibrosis, and there are an estimated 70,000 people with CF worldwide. Approximately 1 out of every 30 Americans is a CF carrier. Because of this, every state in the U.S. routinely screens newborns for CF, to allow for early diagnosis and treatment.

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1"Cystic Fibrosis." Mayo Clinic, Mayo Foundation for Medical Education and Research, 5 July 2023. .Mayo Clinic
2"Cystic Fibrosis (CF)." American Lung Association, 5 July 2023. 美国肺脏协会
32022 Cystic Fibrosis Foundation Patient Registry Highlights. Bethesda，马里兰州。©2023 囊状纤维症基金会。Accessed July 5, 2023.

症状

What are the symptoms of cystic fibrosis?1

Symptoms can vary in severity and based on age:
- 持续咳嗽，有时伴有痰
- 皮肤发咸
- Frequent respiratory and/or sinus infections
- 喘息/呼吸短促
- 尽管食欲良好，但生长不良或体重增加有限
- Frequent greasy stools, or bowel movements
- Nasal polyps
- 杵状指
- 男性不育

How is it diagnosed?1

All newborns are screened for cystic fibrosis (CF) in the United States. This is done using a heel prick and testing for Immunoreactive Trypsinogen (IRT). IRT levels can be elevated due to CF, prematurity, stressful birth, and other reasons, so additional testing is performed to confirm CF. One confirmatory test is known as a sweat test, where the amount of salt in the baby’s sweat is measured.

In addition to newborn screening, prenatal genetic testing may be available prior to birth.

1"Newborn Screening for CF." CF Foundation, 5 July 2023. 囊状纤维症基金会

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