ATI RN
Pediatric Endocrine Nursing Questions Questions
Question 1 of 5
Phenylketonuria (PKU) is characterized by all the following EXCEPT
Correct Answer: C
Rationale: PKU is autosomal recessive (A), brain-affecting (B), normal at birth (D), and causes retardation if untreated (E), but its incidence is ~1 in 10,000-15,000, not 1 in 1,000, making C incorrect.
Question 2 of 5
Mucopolysaccharidoses (MPS) affect many solid organs, the brain is spared in
Correct Answer: D
Rationale: MPS VI (Maroteaux-Lamy) primarily affects somatic tissues (skeleton, heart) with minimal brain involvement, unlike other MPS types with significant neurological impact.
Question 3 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 4 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 5 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.