Cystic fibrosis (CF) is a genetic disorder that primarily affects the lungs and digestive system, leading to thick, sticky mucus buildup that causes breathing and digestion problems. Without treatment, CF can cause chronic lung infections, malnutrition, and life-threatening complications.
📌 Fact: Cystic fibrosis affects about 1 in 3,500 newborns in the U.S. and is one of the most common life-shortening genetic diseases.
🩺 What Causes Cystic Fibrosis?
CF is caused by mutations in the CFTR (Cystic Fibrosis Transmembrane Conductance Regulator) gene, which affects the movement of salt and water in and out of cells. This leads to:
🔹 Thick mucus buildup in the lungs → Causes chronic infections and breathing difficulties.
🔹 Digestive enzyme deficiency → Prevents proper food digestion, leading to malnutrition and poor weight gain.
🔹 Salty sweat → A common sign in CF babies, detected through a sweat chloride test.
📌 Fact: CF is inherited in an autosomal recessive pattern, meaning a child must inherit two faulty CFTR genes (one from each parent) to develop the disease.
🚨 How Does CF Affect Newborns?
Symptoms of CF may appear at birth or in early infancy and include:
❌ Meconium Ileus (Blocked Intestine at Birth) – One of the earliest signs of CF in newborns.
❌ Frequent lung infections – Due to thick mucus trapping bacteria.
❌ Poor weight gain and growth – Caused by difficulty absorbing nutrients.
❌ Salty-tasting skin – A common trait in babies with CF.
📌 Fact: About 15-20% of newborns with CF have meconium ileus, a serious intestinal blockage requiring immediate medical attention.
🔍 How Is CF Diagnosed?
🔹 Newborn Screening – A blood test checks for high levels of immunoreactive trypsinogen (IRT), which can indicate CF.
🔹 Sweat Chloride Test – Measures the amount of salt in a baby’s sweat (high levels suggest CF).
🔹 Genetic Testing – Confirms CFTR gene mutations.
📌 Fact: Newborn screening allows for early diagnosis and treatment, improving life expectancy and quality of life for children with CF.
📌 Final Thoughts
Cystic fibrosis (CF) is a genetic disorder that affects the lungs and digestive system, leading to breathing difficulties, lung infections, and digestive issues. Early diagnosis through newborn screening allows for early intervention, improving survival rates and quality of life.
