Cystic fibrosis (CF) is a genetic disorder that primarily affects the lungs and digestive system, leading to severe damage. It is caused by a mutation in the cystic fibrosis transmembrane conductance (CFTR) gene. This article aims to provide an in-depth understanding of the symptoms of CF, supported by credible resources.

Introduction

CF is a condition where the cells that produce mucus, sweat, and digestive juices undergo a transformation. These secretions, which are usually thin and slippery, become thick and sticky in people with CF. Instead of acting as lubricants, these secretions block tubes, ducts, and passageways, especially in the lungs and pancreas.

Symptoms of Cystic Fibrosis

The symptoms of CF can vary depending on the severity of the disease and may worsen or improve over time. They usually start in early childhood, but in rare cases, they may not manifest until adulthood.

Respiratory Symptoms

The thick mucus associated with CF clogs the airways, leading to several respiratory symptoms:

Persistent cough with phlegm: This is often the first sign of CF.
Wheezing and shortness of breath: These symptoms occur as the disease progresses.
Repeated lung infections: The thick mucus in the lungs makes it easy for bacteria to grow, leading to frequent infections.
Salty tasting skin: Parents often notice this when they kiss their child.
Sinusitis: Chronic sinusitis can be a problem for people with CF.

Wheezing and breathing problems are often signs of CF, but do not confirm its presence.

Digestive Symptoms

CF can also lead to a range of digestive symptoms due to the blockage of ducts in the pancreas

Foul-smelling, bulky greasy stools: This occurs because the body cannot properly absorb fat.
Poor growth and low body weight despite a good appetite: This is due to malabsorption of nutrients.
Blockage in the intestine, especially in newborns: This is a condition known as meconium ileus.
Diarrhea/constipation: These are common symptoms of CF.

Diagnosis of CF

Diagnosis of CF is based on physical examination and certain tests1. These tests include monitoring the levels of immunoreactive trypsinogen in the blood of newborns, sweat tests to check the salt content, and genetic screening tests for defective gene mutations.

Treatment Options

While CF cannot be cured, several treatment options are available to help manage symptoms and reduce complications1. These include medications like Tobramycin, Colistin, Aztreonam, Ibuprofen, Acetylcysteine, Albuterol, and Salmeterol. Procedures like bronchoscopy and lavage, bowel surgery, and lung transplantation can also be beneficial1. Therapies such as breathing exercises, chest physical therapy, enzyme replacement therapy, and oxygen therapy are also used.