A 2 yr. old boy was brought to the pediatrician by his parents with complaints o

Question

A 2 yr. old boy was brought to the pediatrician by his parents with complaints of frequent fevers and failure to grow. The child had had three bouts of pneumonia during the past 2 years and was bothered by chronic bronchititis which caused him to cough up copious amounts of thick, yellow, mucoid sputum. Despite eating normal amounts of food, he had gained very little weight in the past year and had a short, frail stature. He usually had 2-3 bulky, foul-smelling bowel movements daily. The parents also noted that he seemed to especially enjoy salty foods. The child was noted to have a 5 yr. old sister that was perfectly healthy.

a. Based on this information, what is the most probable diagnosis for this child? Explain what information led you to this conclusion. (10pts)

b. What test would the physician most likely order on this child to confirm this diagnosis? What results would be expected? (10pts)

c. What other clinical laboratory tests would most likely be abnormal in this patient?

Explanation / Answer

A) The boy is most probably suffering from cystic fibrosis. Presence of recurrent pulmonary infections and coughing up of thick mucoid sputum is characteristic feature of cystic fibrosis.

B) The physician would do sweat testing to confirm the diagnosis of cystic fibrosis. In this test, the levels of sodium and chloride would be elevated.

C) The levels of vitamin k would be low. Also, there will elevated neutrophil count.

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