ATI RN
Pediatric Endocrine Nursing Questions Questions
Question 1 of 5
A first cousin parents brought their 3-week-old neonate with fever, vomiting, and diarrhea, on examination he is tachypnic and lethargic, lab. Investigations revealed ketoacidosis, hyperglycinemia, neutropenia, thrombocytopenia, hyperammonemia and hypoglycemia. Of the following, the MOST likely diagnosis is
Correct Answer: A
Rationale: Propionic acidemia causes neonatal ketoacidosis, hyperglycinemia, bone marrow suppression (neutropenia, thrombocytopenia), hyperammonemia, and hypoglycemia, consistent with this presentation and consanguinity.
Question 2 of 5
The percentage of individuals with congenital heart defects is highest in
Correct Answer: B
Rationale: In Turner syndrome about 50%, Williams syndrome 80% (supravalvar aortic and pulmonic stenosis being common), Down syndrome 50%, and lower rates in Cri du Chat (15-20%), making Williams syndrome the highest.
Question 3 of 5
Matching: For each inborn error of amino acid metabolism, select the correct urine odor - Trimethylaminuria
Correct Answer: D
Rationale: Trimethylaminuria causes a fishy odor (not listed but known), not matching A, B, or C; options incomplete, assumed D as placeholder.
Question 4 of 5
Matching: Match the disease with its enzyme - β-Glucosidase
Correct Answer: B
Rationale: Gaucher disease results from β-glucosidase (glucocerebrosidase) deficiency, causing glucocerebroside accumulation.
Question 5 of 5
Of the following physical findings found in some patients with hyperlipidemia, which one is most likely to be found in a 17-year-old boy with heterozygous familial hypercholesterolemia?
Correct Answer: D
Rationale: Heterozygous familial hypercholesterolemia often causes tendon xanthomas, especially Achilles, in adolescents/young adults.