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28 Cards in this Set
- Front
- Back
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What is Alport syndrome? |
Defect in type IV collagen |
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What triad of symptoms denotes Alport syndrome? |
- Kidney disease - Hearing loss - Ocular abnormalities |
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What genetic transmission constitutes most of the cases of Alport syndrome? |
X-linked transmission |
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What frequencies of hearing are lost first in Alport syndrome? |
High frequencies |
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What two kinds of ocular abnormalities are associated with Alport syndrome? |
- Anterior lenticonus - Alterations in retinal pigmentation |
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During an evaluation for Alport syndrome, what should be assessed? (3) |
- Family history - Renal biopsy - Hearing test (Genetic testing) |
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What is the treatment for Alport syndrome? (3) |
- Management - ACE inhibitors - Calcineurin inhibitors (cyclosporine) |
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What is the inheritance of Thin Basement Membrane Disease (TBMD)? |
AD |
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What is the classic presentation of TBMD? (3) |
- Persistant microscopic hematuria - HTN - Chronic kidney disease |
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How is TBMD treated? (3) |
- No specific therapy - Antiproteinuric therapy - Monitoring |
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How does Benign Familial Hematuria differ from TBMD? |
Does not progress to CKD nor have proteinuria |
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What is the inheritance of BFH? |
AD |
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What is the symptom of BFH? |
Microscopic hematuria (occasionally gross) |
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Is hematuria that is associated with IgA nephropathy painless? |
yes |
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With what symptom is IgA nephropathy typically preceded? |
URI |
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What is the clinical presentation for IgA nephropathy? (3) |
- Recurrent gross hematuria - Post URI - Also microhematuria |
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What is the treatment for IgA nephropathy? (3) |
- ACEI/ARB - Steroids and Azathioprine - Fish oil |
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What is the prognosis for IgA nephropathy? |
good |
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Describe Congenital Nephrotic Syndrome. |
Loss of nephrin leading to nephrotic syndrome |
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Why is Congenital Nephrotic Syndrome referred to as CNF? |
Refers to Finnish mutation |
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What is the inheritance of CNF? |
AR |
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What characteristic of newborn delivery can hint at CNF? |
Unusually heavy placenta |
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Do steroids help treat CNF? |
No |
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What is the treatment for CNF? (3) |
- Albumin transfusions - Kidney removal and dialysis - Kidney transplant |
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What is the inheritance of FSGS? |
AR |
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What protein is deficient in Focal Segmental Glomerulosclerosis? |
Podocin |
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What is the inheritance of Nail-Patella Syndrome? |
AD |
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What is the clinical presentation of Nail-Patella Syndrome? (5) |
- Dystrophic fingernails - Hypoplastic or absent patella - Dysplastic elbows - Iliac horns - Renal disease |
