ATI RN
Pediatric Endocrine Nursing Questions Questions
Question 1 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 2 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 3 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.
Question 4 of 5
The lipid storage diseases are a group of disorders that result from specific enzymatic deficiencies. Each statement about these disorders is true EXCEPT
Correct Answer: B
Rationale: Diagnosis typically uses leukocyte enzyme assays or genetic testing, not liver biopsy, which is invasive and less common.
Question 5 of 5
The most useful therapeutic approach to the patient in the previous two questions is
Correct Answer: C
Rationale: NTBC (nitisinone) is the standard treatment for tyrosinemia type I, reducing toxic metabolites.