Nokea
Galactosaemia:
- A. Exhibits autosomal recessive inheritance
- B. Is associated with cataracts
- C. Results in a low glucose level
- D. Is due to an inability to convert galactose into glucose
Correct Answer: A
Rationale: Galactosaemia is an autosomal recessive disorder. It is associated with cataracts and results from the inability to convert galactose into glucose.
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The following conditions can present in a newborn infant as a bullous eruption:
- A. Syphilis
- B. Mast cell disease
- C. Epidermolysis bullosa
- D. Phenylketonuria
Correct Answer: C
Rationale: Epidermolysis bullosa is a genetic condition causing blistering of the skin. Syphilis and mast cell disease can also cause bullous eruptions, but phenylketonuria does not.
The clinic nurse reviews the record of a child just seen by the health care provider and diagnosed with suspected aortic stenosis. The nurse expects to note documentation of which clinical manifestation specifically found in this disorder?
- A. Pallor
- B. Hyperactivity
- C. Exercise intolerance
- D. Gastrointestinal disturbances
Correct Answer: C
Rationale: Exercise intolerance is a common clinical manifestation of aortic stenosis due to the heart's inability to pump sufficient blood during increased physical activity.
Features differentiating renal tubular acidosis type II from type I include:
- A. Increased anion gap
- B. Nephrocalcinosis
- C. Urinary pH can be lowered < 5.5 in ammonium chloride loading test in type I
- D. Aminoaciduria
Correct Answer: C
Rationale: In type I renal tubular acidosis, urinary pH can be lowered below 5.5 during an ammonium chloride loading test, unlike in type II.
A 3-year-old child diagnosed with congestive heart failure is receiving maintenance doses of digoxin and furosemide (Lasix). She is rubbing her eyes when she is looking at the lights in the room and her heart rate is 65 beats per minute. The nurse expects which laboratory finding?
- A. Hypokalemia
- B. Hypomagnesemia
- C. Hypocalcemia
- D. Hypophosphatemia
Correct Answer: A
Rationale: Hypokalemia is a common side effect of furosemide, a diuretic, and can exacerbate digoxin toxicity, which may present with symptoms such as visual disturbances and bradycardia.
The following syndromes are due to chromosomal abnormalities:
- A. Cri-du-chat syndrome
- B. Kearns-Sayre syndrome
- C. Marfan's syndrome
- D. Turner's syndrome
Correct Answer: D
Rationale: Turner's syndrome: Turner's syndrome is caused by a monosomy of the X chromosome (45,X), leading to characteristic features such as short stature and ovarian insufficiency.