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Y1 Rheumatology > Alport Syndrome - week 17 > Flashcards

Alport Syndrome - week 17 Flashcards

1
Q

What is Alport syndrome?

A

Genetic collagen mutation disorder

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2
Q

Epidemiology of Alport syndrome?

A

Boys 3-4yrs

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3
Q

Pathophys of Alport syndrome?

A

Col-4-A5 mutation of collagen
X-linked

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4
Q

Presentation of Alport syndrome?

A

Chronic kidney disease
Hearing loss
Eye issues
Haematuria

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5
Q

Investigations for Alport syndrome?

A

Bloods
Opthalmoscopy
Urine sample

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6
Q

Management of Alport syndrome?

A

Kidney transplant
Dialysis

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7
Q

Prognosis of Alport syndrome?

A

Normal if treated

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Y1 Rheumatology (37 decks)

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