ATI RN
Endocrine System Pediatric Questions
Question 1 of 5
A 9-year-old boy admitted to the hospital because of fracture of left femur due to a minor trauma. Past history revealed recurrent attacks of epistaxis and intermittent generalized bone pain. On examination, there is massive splenomegaly. Of the following, the MOST appropriate practical treatment of this disease is
Correct Answer: C
Rationale: Enzyme replacement therapy (ERT) is the practical, standard treatment for Gaucher disease, reducing splenomegaly and bone issues, more widely used than gene therapy (A), transplantation (B, E), or substrate reduction (D).
Question 2 of 5
A 7-month-old girl presented with recurrent chest infection, chocking during feeding, large protruded tongue, persistent head lag, and hepatomegaly. Chest X-ray showed cardiomegaly. All the following are beneficial in the treatment of this patient EXCEPT
Correct Answer: A
Rationale: Pompe disease benefits from ERT (E), ventilatory support (D), and transplantation (C). Exercise therapy (A) is ineffective due to muscle glycogen accumulation; high-protein diet (B) may help marginally.
Question 3 of 5
All the following should be restricted in hereditary fructose intolerance EXCEPT
Correct Answer: A
Rationale: HFI requires restricting fructose sources (sorbitol, juice, sugar, cereal, B-E). Milk (A), primarily lactose, is safe and not restricted.
Question 4 of 5
Which of the following mucopolysaccharidoses have normal intelligence?
Correct Answer: D
Rationale: Morquio disease (MPS IV) typically preserves intelligence, unlike Sly (A), Hurler (B), Hunter (C), and Sanfilippo (E), which involve cognitive decline.
Question 5 of 5
A definitive diagnosis of mucopolysaccharidoses disorder is established by
Correct Answer: B
Rationale: Enzyme assay confirms MPS by detecting specific enzyme deficiencies, more definitive than biopsy (A), imaging (C), marrow (D), or GAG screening (E).