Which genetic disorder is present at birth and affects both the respiratory and digestive systems?

Which genetic disorder is present at birth and affects both the respiratory and digestive systems?

• A. Cystic fibrosis
• B. Atheroma
• C. Sinusitis
• D. Arrhythmia

Answer: (A)

Cystic fibrosis is a congenital genetic disorder that affects both the respiratory and digestive systems. It’s caused by mutations in the CFTR gene, which disrupts a protein that regulates salt and water transport across epithelial cells. In the lungs, this leads to unusually thick, sticky mucus that hardens and blocks airways, causing recurrent infections and breathing difficulties from birth. In the digestive system, the thick mucus can block pancreatic ducts, leading to reduced pancreatic enzyme release and poor digestion and nutrient absorption, which shows up as malabsorption and steatorrhea in infancy or early childhood. Because it’s autosomal recessive, a child must inherit one mutated copy from each parent, so the condition is present from birth and affects multiple organ systems. The other options don’t fit this pattern: atheroma refers to cholesterol-rich plaques in arteries and isn’t a congenital multisystem genetic disorder; sinusitis is usually an inflammatory condition of the sinuses not inherently genetic from birth; arrhythmia concerns heart rhythm irregularities, not a congenital multisystem digestive issue.

Cystic fibrosis is a congenital genetic disorder that affects both the respiratory and digestive systems. It’s caused by mutations in the CFTR gene, which disrupts a protein that regulates salt and water transport across epithelial cells. In the lungs, this leads to unusually thick, sticky mucus that hardens and blocks airways, causing recurrent infections and breathing difficulties from birth. In the digestive system, the thick mucus can block pancreatic ducts, leading to reduced pancreatic enzyme release and poor digestion and nutrient absorption, which shows up as malabsorption and steatorrhea in infancy or early childhood. Because it’s autosomal recessive, a child must inherit one mutated copy from each parent, so the condition is present from birth and affects multiple organ systems.

The other options don’t fit this pattern: atheroma refers to cholesterol-rich plaques in arteries and isn’t a congenital multisystem genetic disorder; sinusitis is usually an inflammatory condition of the sinuses not inherently genetic from birth; arrhythmia concerns heart rhythm irregularities, not a congenital multisystem digestive issue.