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MRCP > Metabolic conditions > Flashcards

Metabolic conditions Flashcards

1
Q

Fine, fair hair
Arachnodactyly
Kyphosis
Learning difficulties and seizures
Downward dislocation of lens
DVT

Condition?
Inheritance?
Treatment

A

Homocystinuria
Autosomal recessive

Treatment with vitamin B6

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2
Q

Amyloidosis

A

Extracellular deposition of fibrillar protein (amyloid)

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3
Q

Congo red: apple green birefringence

Condition?

A

amyloidosis

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4
Q

Elderly man
Bone pain
Raised ALP
Headaches/reduced hearing/dizziness

A

Paget’s disease

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5
Q

Paget’s disease investigations

A

Raised hydroxyproline in urine and serum
Bone expansion with coarsened tribecular pattern

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6
Q

Bone pain, tenderness and proximal myopathy (→ waddling gait)

A

Osteomalacia -> vitamin D deficiency

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7
Q

Painless widened wrists in child
Fatigue

A

Rickets (vitamin D deficiency)

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8
Q

Restless legs most important blood test

A

ferritin

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9
Q

Recurring serositis (peritonitis, synovitis, pericarditis)
Fever
Response to colchicine
Turkish decent

A

Familial Mediterranean fever

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MRCP (19 decks)

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