ATI RN
Pediatric Endocrine Nursing Questions Questions
Question 1 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 2 of 5
Matching: Mutation in KIT gene
Correct Answer: D
Rationale: Piebaldism results from KIT gene mutations, causing patchy depigmentation.
Question 3 of 5
To evaluate the patient in the previous question, all of the following are appropriate EXCEPT
Correct Answer: D
Rationale: 17-hydroxyprogesterone is for congenital adrenal hyperplasia, not organic acidemia evaluation.
Question 4 of 5
Matching: 3-Methylglutaconic aciduria type II
Correct Answer: D
Rationale: Type II (Barth syndrome) is X-linked with cardiomyopathy.
Question 5 of 5
Serum amino acids are normal and the urine orotic acid is elevated in the patient in the previous question. The most likely diagnosis is
Correct Answer: D
Rationale: Elevated orotic acid with hyperammonemia points to ornithine transcarbamylase (OTC) deficiency.