An 18-month-old male is admitted to the hospital with symptoms of a respiratory infection. The patient's mother reports that since birth, the toddler has frequently had a cough and copious nasal secretions. His weight gain has been poor, despite his excellent appetite. The patient appears in moderate respiratory distress, so oxygen therapy and intravenous fluids are initiated. The physician orders tests for cystic fibrosis due to the patient's history and clinical presentation. When the tests confirm the diagnosis, as the RN, you provide education to the mother regarding this autosomal recessive disease.
-You educate the patient's mother that the most common cause of cystic fibrosis is a deletion of three nucleotides.Which of the following statements,by the mother,demonstrates an understanding of the disease etiology?

Question

Quizplus · Accepted Answer

Cystic fibrosis is commonly caused by a deletion of three nucleotides in the CFTR gene, leading to the absence of the amino acid phenylalanine at position 508.

An 18-Month-Old Male Is Admitted to the Hospital with Symptoms