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Medicine > Polycystic Kidney Disease > Flashcards

Polycystic Kidney Disease Flashcards

1
Q

Facts

A

Inherited
Cysts of varying sizes replacing renal parenchyma
Enlarged kidneys

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2
Q

Types

A

Autosomal Dominant PKD

Autosomal Recessive PKD

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3
Q

ADPKD: etiology

A
  • mutation in chromosome 16 or 4

- alteration of polycystin 1 or 2

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4
Q

ADPKD: onset

A
  • in adulthood

- typically >30 yrs old

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5
Q

ADPKD: gènes and proteins

A

Genes:
ADPKD 1
ADPKD 2

Proteins:
Polycystin 1
Polycystin 2

Bilateral cysts

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6
Q

ARPKD: etiology

A

Mutation on chromosome 6

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