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SB_Genetics (Pediatrics Royal College 2018) > Cystinosis > Flashcards

Cystinosis Flashcards

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1
Q

What is the inheritance pattern for cystinosis?

A

AR

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2
Q

What is the cause of cystinosis?

A

Lysosomal transporter mutation

Causes intracellular cysteine accumulation

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3
Q

What are the clinical characteristics of cytinosis?

A
  1. Fanconi syndrome (proximal RTA)
  2. Chronic renal failure
    a) growth failure
    b) Rickets
  3. Ocular abnormalities
    a) Corneal opacities
    b) Visual impairment
    c) Photophobia
  4. Diabetes
  5. Infertility
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SB_Genetics (Pediatrics Royal College 2018) (57 decks)

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