USMLE Answer 48

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48. The correct answer is E. The child likely has cystic fibrosis. In this disorder, an abnormality of chloride channels causes all exocrine secretions to be more viscous than normal. Pancreatic secretion of digestive enzymes is often severely impaired, with consequent steatorrhea and deficiency of fat-soluble vitamins, including vitamin A.

Cystinuria (choice A) is a relatively common disorder in which a defective transporter for dibasic amino acids (cystine, ornithine, lysine, arginine; COLA) leads to saturation of the urine with cystine, which is not very soluble in urine, and precipitates out to form stones.

Hypoglycemia (choice B) is not a prominent feature of children with cystic fibrosis who are on a normal diet. Hyperglycemia may occur late in the course of the disease.

Iron deficiency anemia (choice C) is not typically found in children with cystic fibrosis.

Sphingomyelin accumulation (choice D) is generally associated with deficiency of sphingomyelinase, as seen in Niemann-Pick disease.