Question

CASE STUDY 28.3 arents brought their 7-year-old son to the pediatri- cian with the complaint of frequent fevers and failure to grow. The child had three bouts of pneumonia during the past 2 years and was bothered by chronic bronchitis, which caused him to cough up copious amounts of thick, yellow, mucoid sputum. Despite a big appetite, he had gained only 1 to 2 lb in the past 2 years and was of short, frail stature. He especially liked salty foods. He usually had three or four bulky, foul-smelling bowel movements daily. A 9-year-old sister was in excellent health. Questions 1. What is the most likely disease? 2. What clinical laboratory test would be most informa- tive, and what results would be expected? 3. What other clinical laboratory tests would likely be abnormal?

Answer 1

Answer 1) The symptoms such as frequent pneumonia, chronic bronchitis, and poor growth are all symptoms of cystic fibrosis.
Answer 2) Genetic testing for cystic fibrosis will be the most informative laboratory test. This will provide us the information about the mutation in the CFTR gene which is indicative of cystic fibrosis diseases. Also, it will give us information whether the child is a carrier of the disease or having homozygous gene mutation. This will help in better management of the the upcoming symptoms of the disease.

Answer 3) The test like sweat test will also be abnormal in this disease as the chlorine level of the sweat is very high in affected individuals.