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9 Cards in this Set
- Front
- Back
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What is Achondroplasia?
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cell signalling defect of fibrobast growth factor (FGF) receptor 3
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what are the features of achondroplasia?
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Short limbs --> dwarfism. BUT head and trunk normal size.
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Is achondroplasia associated with mom or dad side?
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Dad!! (paternal) older dad--> increased chance.
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What condition is associated with fibroblast growth factor?
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Achondroplasia.
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is there a number of the FGF receptor ass. with it?
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Yes. its FGF receptor 3
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what gene is involved in ADPKD in 90 % cases?
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APKD1. chromosome 16
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How does a typical pt presents with ADPKD?
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flank pain, hematuria(blood in urine), HTN,progressive renal failure.
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Other conditions associated with adpkd?
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polycystic liver disease, big one is BERRY ANEURYSM , mitral valve Prolapse,
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Can infants also develop this?
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Yes. BUT that one is autosomal RECESSIVE.
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