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11 Cards in this Set
- Front
- Back
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Fabry Dz and Polycystic Kidney Dz are inherited how?
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simple mendelian
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Nephrin, a-actining-4, podocin, TRPC6 are all important w/ regards to what?
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podocytes (some have other functions too tho')
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Can FSGS be familial?
What are three potential defects in this dz? - can they be cured by txplt? |
Yes, as well as secondary or sporadic.
nephrin podocin a-actinin-4 - nephrin and podocin defects will NOT be cured by txplt |
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What is Fabry dz?
- molecular result? - is this a multisystemic dz? - onset? - renal manifestations? - usually HTN? - what is seen on biopsy? |
X-linked lysosomal storage disorder
- deficiency of enzyme a-glactosidase A --> results in intracellular accumulation of glycosphingolipids. - yes - parathesia / diarrhea in childhood. - isosthenuria (inability to concentrate urine), microalbuminuria - no - little lipid deposits in the glomeruli |
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Corneal Verticillata (Whorl) looks like a streaking, cloudy cornea. What dz should you suspect?
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Fabry dz
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Is there a tx available for Fabry dz? Does this slow the rise in serum creatinine?
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Yes, Agalsidase-Beta (the enzyme that these people don't make).
Yes. |
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What is the most common hereditary renal dz?
- any racial predilection? - penetrance? - variability? - presentation? |
ADPKD (auto dom poly cystic kid dz)
- no - 100% - severity varies widely - mult bilateral cyts, intermittant gross hematuria (esp after trauma), pain, nephrolithiasis (usually uric acid) --> 50% will eventually get ESRD |
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What are the two genes that cause ADPKD?
- pathogenesis? - do cysts arise in all tubules? what does this suggest? |
PKD1 and PKD2
--> cause \influx of calcium --> ^ sim adenylate cyclase 6 --> ^cAMP --> ^ cellular proliferation - no - suggests a "second hit" model. |
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Does genetic testing coming back negative mean the pt doesn't have ADPKD?
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no, they are HUGE genes, the sensitivity is quite low.
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Tx for ADPKD?
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no FDA approved tx specific to the dz
- BP control, ACE-i/ARBs, Na restrictions... maybe mTOR inhibitors. |
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What is ARPKD?
- where is the defect? - also tends to affect which organ? |
Autosomal recessive PKD
- Fibrocystin 1: PKHD1 - liver, because this is actually a hepatocyte growth factor receptor-like protein |
