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Ladies (+ Bradley) Path 2016 > Chem Path > Flashcards

Chem Path Flashcards

1
Q
  1. A 5-year old boy presents to his GP with his mother after being found to have abnormal LFTs. On examination, he has a large fontanelle and a dysmorphic face. As a baby, he had jaundice and suffered from several seizures but the Drs didn’t work out the cause. After calling the lab, the GP discovers they want to test for Very Long Chain Fatty Acids
  2. Urea Cycle Disorder
  3. Organic Aciduria
  4. Galactosaemia
  5. Von Gierke’s disease
  6. Kearns Sayre disease
  7. Barth disease
  8. Hurler’s disease
  9. Peroxismal disorder
A
  1. Peroxismal disorder
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2
Q
  1. A 3 month old girl comes to A&E with her hysterical dad as she is fitting. After stabilising the girl, blood results shows hypoglycaemia, hyperlipidaemia, hyperuricaemia and neutropaenia. After more investigations, she is found to have glucose-6 phosphatase deficiency.
  2. Urea Cycle Disorder
  3. Organic Aciduria
  4. Galactosaemia
  5. Von Gierke’s disease
  6. Kearns Sayre disease
  7. Barth disease
  8. Hurler’s disease
  9. Peroxismal disorder
A
  1. Von Gierke’s disease
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3
Q
  1. A 6-month old baby boy is brought in to his GP because his mum has noticed that he ugly. The GP agrees that he ugly and a blood film shows Reilly bodies in his lymphocytes. He also has mucopolysaccharides in his urine and is treated with Laronidase
  2. Urea Cycle Disorder
  3. Organic Aciduria
  4. Galactosaemia
  5. Von Gierke’s disease
  6. Kearns Sayre disease
  7. Barth disease
  8. Hurler’s disease
  9. Peroxismal disorder
A
  1. Hurler’s disease
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4
Q
  1. A 15-monther is found to have an abnormal gait and his parents complain that he doesn’t respond to them. On examination, he has retinopathy and Chronic Progressive External Ophthalmoplegia and investigations show raised CSF protein.
  2. Urea Cycle Disorder
  3. Organic Aciduria
  4. Galactosaemia
  5. Von Gierke’s disease
  6. Kearns Sayre disease
  7. Barth disease
  8. Hurler’s disease
  9. Peroxismal disorder
A
  1. Kearns Sayre disease
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5
Q
  1. Mum complains that her baby smells. After stifling her sniggers, the GP agrees that the baby does smell. After taking a urine sample, the GP notices it smells cheesy. The mum also mentions that she has had problems feeding and that her baby is floppy.
  2. Urea Cycle Disorder
  3. Organic Aciduria
  4. Galactosaemia
  5. Von Gierke’s disease
  6. Kearns Sayre disease
  7. Barth disease
  8. Hurler’s disease
  9. Peroxismal disorder
A
  1. Organic Aciduria
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6
Q
  1. Deficiency in this leads to a triad of dementia, dermatitis and diarrhoea
  2. Vit B2
  3. Vit B3
  4. Vit B6
  5. Marasmus
  6. Vit C
  7. Zinc
  8. Iodine
  9. Kwashiorkor
A
  1. Vit B3
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7
Q
  1. Vitamin often given with Isoniazid to help with peripheral neuropathy
  2. Vit B2
  3. Vit B3
  4. Vit B6
  5. Marasmus
  6. Vit C
  7. Zinc
  8. Iodine
  9. Kwashiorkor
A
  1. Vit B6
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8
Q
  1. A Spanish girl attends A&E with severe, intermittent colicky flank pain. She says that she works on a farm and spends most of her day eating the fruit that she is supposed to be picking. She has an excess of this.
  2. Vit B2
  3. Vit B3
  4. Vit B6
  5. Marasmus
  6. Vit C
  7. Zinc
  8. Iodine
  9. Kwashiorkor
A
  1. Vit C
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9
Q
  1. 2 year old girl from Ethiopia is seen by one of those do-gooders at a rural health clinic. She is clearly unwell, lethargic, displays hepatomegaly and has some ulcers as well as obvious swelling all over her body.
  2. Vit B2
  3. Vit B3
  4. Vit B6
  5. Marasmus
  6. Vit C
  7. Zinc
  8. Iodine
  9. Kwashiorkor
A
  1. Kwashiorkor
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10
Q
  1. Deficiency in this causes a goitre.
  2. Vit B2
  3. Vit B3
  4. Vit B6
  5. Marasmus
  6. Vit C
  7. Zinc
  8. Iodine
  9. Kwashiorkor
A
  1. Iodine
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11
Q
  1. Patient has a mutation in ApoE2
  2. Familial Hypercholesterolemia
  3. Tangier disease
  4. Familial hyper-alpha-lipoproteinaemia
  5. Phytosterolaemia
  6. Familial T4 hypertriglyceridaemia
  7. Familial T5 hypertriglyceridaemia
  8. Familial T1 hypertriglyceridaemia
  9. Familial dysBeta-lipoproteinaemia (T3)
A
  1. Familial dysBeta-lipoproteinaemia (T3)
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12
Q
  1. Patient has excessive production of triglycerides
  2. Familial Hypercholesterolemia
  3. Tangier disease
  4. Familial hyper-alpha-lipoproteinaemia
  5. Phytosterolaemia
  6. Familial T4 hypertriglyceridaemia
  7. Familial T5 hypertriglyceridaemia
  8. Familial T1 hypertriglyceridaemia
  9. Familial dysBeta-lipoproteinaemia (T3)
A
  1. Familial T4 hypertriglyceridaemia
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13
Q
  1. Patient has CETP deficiency
  2. Familial Hypercholesterolemia
  3. Tangier disease
  4. Familial hyper-alpha-lipoproteinaemia
  5. Phytosterolaemia
  6. Familial T4 hypertriglyceridaemia
  7. Familial T5 hypertriglyceridaemia
  8. Familial T1 hypertriglyceridaemia
  9. Familial dysBeta-lipoproteinaemia (T3)
A
  1. Familial hyper-alpha-lipoproteinaemia
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14
Q
  1. Patient has ATP-Binding Casette (ABC) G5 mutation
  2. Familial Hypercholesterolemia
  3. Tangier disease
  4. Familial hyper-alpha-lipoproteinaemia
  5. Phytosterolaemia
  6. Familial T4 hypertriglyceridaemia
  7. Familial T5 hypertriglyceridaemia
  8. Familial T1 hypertriglyceridaemia
  9. Familial dysBeta-lipoproteinaemia (T3)
A
  1. Phytosterolaemia
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15
Q
  1. Patient has HDL deficiency
  2. Familial Hypercholesterolemia
  3. Tangier disease
  4. Familial hyper-alpha-lipoproteinaemia
  5. Phytosterolaemia
  6. Familial T4 hypertriglyceridaemia
  7. Familial T5 hypertriglyceridaemia
  8. Familial T1 hypertriglyceridaemia
  9. Familial dysBeta-lipoproteinaemia (T3)
A
  1. Tangier disease
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16
Q
  1. Patient has skin lesions + neurovisceral symptoms. She is found to have Coproporphyrin Oxidase deficiency
  2. X-linked sideroblastic anaemia
  3. ALA dehydratase deficiency
  4. Acute Intermittent Porphyria
  5. Hereditary coproporphyria
  6. Variegate porphyria
  7. Congenital erythropoietic porphyria
  8. Erythropoietic protoporphyria
  9. Porphyria Cutanea Tarda
A
  1. Hereditary coproporphyria
17
Q
  1. Patient with onocholysis, skin blistering + scarring with hypertrichosis. Found to have increased urinary uroporphyrins + ferritin. Goes on to get liver cancer
  2. X-linked sideroblastic anaemia
  3. ALA dehydratase deficiency
  4. Acute Intermittent Porphyria
  5. Hereditary coproporphyria
  6. Variegate porphyria
  7. Congenital erythropoietic porphyria
  8. Erythropoietic protoporphyria
  9. Porphyria Cutanea Tarda
A
  1. Porphyria Cutanea Tarda
18
Q
  1. Patient comes in saying that when he sat on the toilet, heaven opened and God told him to vote Leave on June 23rd. Psychiatrist thought it odd and also noticed from his drug chart that he had been prescribed steroids recently. Investigations show ALA + PBG in the urine and is successfully treated with IV carbs + haem arginate
  2. X-linked sideroblastic anaemia
  3. ALA dehydratase deficiency
  4. Acute Intermittent Porphyria
  5. Hereditary coproporphyria
  6. Variegate porphyria
  7. Congenital erythropoietic porphyria
  8. Erythropoietic protoporphyria
  9. Porphyria Cutanea Tarda
A
  1. Acute Intermittent Porphyria
19
Q
  1. Patient has ALA synthase deficiency
  2. X-linked sideroblastic anaemia
  3. ALA dehydratase deficiency
  4. Acute Intermittent Porphyria
  5. Hereditary coproporphyria
  6. Variegate porphyria
  7. Congenital erythropoietic porphyria
  8. Erythropoietic protoporphyria
  9. Porphyria Cutanea Tarda
A
  1. X-linked sideroblastic anaemia
20
Q
  1. Autosomal Recessive condition in patient with burning, itching + oedema after being out in the sun. Shown to have raised RBC prototporphyrin.
  2. X-linked sideroblastic anaemia
  3. ALA dehydratase deficiency
  4. Acute Intermittent Porphyria
  5. Hereditary coproporphyria
  6. Variegate porphyria
  7. Congenital erythropoietic porphyria
  8. Erythropoietic protoporphyria
  9. Porphyria Cutanea Tarda
A
  1. Congenital erythropoietic porphyria
21
Q
  1. All Normal
  2. Primary hyperparathyroidism
  3. Secondary hyperparathyroidism
  4. Tertiary hyperparathyroidism
  5. Hypoparathyroidism
  6. Rickets/osteomalacia
  7. Pagets
  8. Osteoporosis
A
  1. Osteoporosis
22
Q
  1. Raised ALP only
  2. Primary hyperparathyroidism
  3. Secondary hyperparathyroidism
  4. Tertiary hyperparathyroidism
  5. Hypoparathyroidism
  6. Rickets/osteomalacia
  7. Pagets
  8. Osteoporosis
A
  1. Pagets
23
Q
  1. Raised PTH, low Ca, low PO4, high ALP, low Vit D
  2. Primary hyperparathyroidism
  3. Secondary hyperparathyroidism
  4. Tertiary hyperparathyroidism
  5. Hypoparathyroidism
  6. Rickets/osteomalacia
  7. Pagets
  8. Osteoporosis
A
  1. Rickets/osteomalacia
24
Q
  1. Raised PTH, low Ca, high PO4, others normal after a kidney transplant
  2. Primary hyperparathyroidism
  3. Secondary hyperparathyroidism
  4. Tertiary hyperparathyroidism
  5. Hypoparathyroidism
  6. Rickets/osteomalacia
  7. Pagets
  8. Osteoporosis
A
  1. Tertiary hyperparathyroidism
25
Q
  1. Raised PTH, PO4, ALP and normal Ca
  2. Primary hyperparathyroidism
  3. Secondary hyperparathyroidism
  4. Tertiary hyperparathyroidism
  5. Hypoparathyroidism
  6. Rickets/osteomalacia
  7. Pagets
  8. Osteoporosis
A
  1. Secondary hyperparathyroidism

Ladies (+ Bradley) Path 2016 (5 decks)

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