ATI RN
Endocrine System Pediatrics Questions
Question 1 of 5
One of the following do not appear to be of concern in cystic fibrosis-related diabetes (CFRD)
Correct Answer: B
Rationale: Macrovascular complications (B) are less common in CFRD compared to T1/T2DM.
Question 2 of 5
The mainstay of treatment of phenylketonurea (PKU) is especial diet. All the following statements are true EXCEPT
Correct Answer: D
Rationale: PKU diet allows some phenylalanine (A), is lifelong (B), critical in pregnancy (C), and starts above 10 mg/dL (D). Mild hyperphenylalaninemia (6-10 mg/dL) may not require diet, making E false as it suggests restriction.
Question 3 of 5
A 27-day-old girl presented with abnormal bicycling movement, lethargy, poor feeding, and repeated vomiting for the last 7 days, and then she developed rapid breathing, opisthotonos, and hypertonicity with bad odor urine. Of the following, the MOST effective mode of therapy is
Correct Answer: D
Rationale: MSUD, indicated by symptoms and urine odor, is best managed with a diet low in branched-chain amino acids to reduce toxic metabolites, more effective than hydration (A), dialysis (B), transplantation (C), or calories alone (D).
Question 4 of 5
An 11-month-old boy presented with repeated convulsions, poor eye contact, exaggerated startle response to noise, and large head. Ophthalmic exam revealed cherry-red spot. Of the following, the MOST likely diagnosis is
Correct Answer: D
Rationale: Tay-Sachs disease causes cherry-red spots, seizures, macrocephaly, and startle response from GM2 ganglioside accumulation, matching this case, unlike others (A, B, C, E).
Question 5 of 5
All the following lipidoses are inherited as an autosomal recessive traits EXCEPT
Correct Answer: A
Rationale: Fabry disease is X-linked, unlike the autosomal recessive Krabbe (B), Gaucher (C), Tay-Sachs (D), and Niemann-Pick (E).