ATI RN
Pediatric Endocrine Nursing Questions Questions
Question 1 of 5
The MOST appropriate method to confirm the diagnosis of tyrosinemia type 1 is by elevated level of
Correct Answer: D
Rationale: Serum succinylacetone is the specific diagnostic marker for tyrosinemia type 1, reflecting fumarylacetoacetate hydrolase deficiency, more definitive than α-fetoprotein (A), tyrosine (B), methionine (C), or ALA (E).
Question 2 of 5
A 2-year-old boy presented with failure to thrive, regression of developmental milestone, and difficult to contact with surroundings. On examination, there are hepatosplenomegaly and moderate lymphadenopathy. Of the following, the MOST likely diagnosis is
Correct Answer: D
Rationale: Niemann-Pick disease (type A/B) fits with hepatosplenomegaly, lymphadenopathy, and developmental regression, unlike Gaucher (A), Sandhoff (B), Tay-Sachs (C), or von Gierke (D).
Question 3 of 5
A 2-year-old boy presented with growth retardation, hepatomegaly, and recurrent attacks of hypoglycemia; biochemical study reveals elevated blood lactate, triglyceride, and uric acid levels. All the following are complications of this disease EXCEPT
Correct Answer: C
Rationale: Von Gierke disease (GSD I) leads to pancreatitis (A), renal failure (B), hepatic adenoma (D), and pulmonary hypertension (E) from metabolic derangements. Cardiomyopathy (C) is more typical of GSD II.
Question 4 of 5
A 28-day-old boy presented with prolonged neonatal jaundice, lethargy, poor feeding, and failure to regain birth weight. On examination there are hepatomegaly and cataract. Of the following, the MOST likely injured organs in this disease are
Correct Answer: A
Rationale: Galactosemia injures eyes (cataracts), liver (jaundice, hepatomegaly), and brain (lethargy) from galactose-1-phosphate toxicity, not kidney (B, C, D) or pancreas (E) prominently.
Question 5 of 5
The earliest radiographic sign in Hurler syndrome is
Correct Answer: C
Rationale: Enlarged J-shaped sella is an early radiographic sign in Hurler syndrome from glycosaminoglycan (GAG) accumulation, preceding other skeletal changes (A, B, D, E).