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

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Pediatric Endocrine Nursing Questions Questions

Question 1 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 2 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).

Question 3 of 5

A 5-year-old boy presented with chronic diarrhea. On examination he had hepatosplenomegaly, coarse facial features, joint stiffness, clear cornea, and short stature. Of the following, the MOST likely diagnosis is

Correct Answer: B

Rationale: Hunter disease (MPS II) matches with hepatosplenomegaly, coarse facies, clear cornea, and short stature, unlike Hurler (A, cloudy cornea), Scheie (C, milder), Morquio (D, skeletal), or Sanfilippo (E, CNS).

Question 4 of 5

Acute intermittent porphyria (AIP) could be exacerbated by all the following EXCEPT

Correct Answer: D

Rationale: AIP is worsened by surgery (A), hormonal changes (B, C, D), and fasting (opposite of E). Increased carbohydrate intake prevents attacks, making E the exception.

Question 5 of 5

The MOST important screening test of acute intermittent porphyria is

Correct Answer: D

Rationale: Urinary porphobilinogen (PBG) is the key screening test for AIP, elevated during attacks, more specific than other porphyrin tests (A-D).

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