Case Study:

A 24-year old primigravida gives birth at term to an infant with Apgar scores of 8 and 10 at 1 and 5 minutes. No congenital anomalies are noted. The infant develops abdominal distention over the first week of life. An ultrasound scan is performed that suggests the presence of meconium ileus. Subsequently, the infant has persistent steatorrhea during childhood.

Which of the following laboratory test findings is most likely related to this child's underlying disease?

A Decreased serum thyroxine

B Positive human immunodeficiency virus serology

C Elevated sweat chloride

D Increased urine homovanillic acid

E Hyperbilirubinemia


Answer / Explanation:


The findings are typical for cystic fibrosis, which is an inherited defect in chloride ion transport from a faulty CFTR gene.