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17 Cards in this Set
- Front
- Back
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What is found at 11p13?
Associated with? |
WT1 gene- Wilm's tumor)
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Mutation in this gene causes agenesis or reduced size of kidney
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SPRY2
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Describe the following terms
a. Ectopic Kidneys b. horseshoe kidney |
a. Normal kidneys but
abnormal location – At low levels (above pelvic brim or within pelvis) – Causes kinking of the ureters obstruction to urinary flowpredisposes to bacterial infections b. Fusion of upper of lower poles of kidney – Usually asymptomatic |
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Most common cause of an abdominal mass in a newborn ‐ Palpable flank mass in otherwise healthy infant
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multicystic renal dysplasia
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is a hereditary disorder of the renal
proximal tubule’s reabsorption of filtered cystine and dibasic amino acids (lysine, ornithine, arginine) |
cystinuria
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what are the amino acids associated with cystinuria?
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COAL
cystine ornithine arginine lysine |
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Differentiated betweeen cysteine and cystine
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Cystine is a dimeric amino acid formed by
oxidation of two cysteine residues that are covalently linked by a disulfide bond -Forms solid which melts at 247C (hair 5%cystine) |
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1. is the transmembrane channel
mediating the uptake of the 4 amino acids 2. forms a heterodimeric complex with the channel and is critical for its targeting to the luminal membrane Which of these transporters is required to place the transporter in the membrane? |
1. SLC7A9 (487 aa)
2. SLC3A1 (663) SLC3A1 |
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1. Type I now called?
2. Type II and III now called? |
1. Type A
2. Type B |
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all 4 amino acids excreted in
high concentration in urine – mutation in SLC3A1 gene on Chr 2p1.3 |
type I or Type A cystinuria
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(incomplete recessiveness) elevated amino acid excretion but variable intestinal absorption – mutation in SLC7A9 gene on Chr 19q13.1
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type II and III aka type B cystinuria
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What is the primary defect and findings of polycystic kidney disease?
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- abnormal cell growth leads to progressive kidney failure
- A cyst begins as an expansion in a tubule, enlarges, usually due to fluid accumulation • The cells making up the cysts multiply, causing the cyst to grow even larger • May also grow in the liver, pancreas, spleen |
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PKD:
a. autosomal dominant genes associated. which chromosome of each gene? b. autosomal recessive c. "childhood PKD" |
a. ADPKD (autosomal dominant PKD): PKD1 Ch 16 and PKD2 genes- Ch 4
b. ARPKD (autosomal recessive PKD): PKHD1 gene Ch 5 c. see answer B |
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What is 25-40$ of cases of ADPKD occur with/without?
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new mutation causes w/o family history
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which of the PKD's (1,2) cause most cases of ADPKD and which protein is used?
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PKD1 gene on Chr 16p13.3
(polycystin 1) - mutations account for 85% of ADPKD • PKD2 gene on Chr 4q13-p23 (polycystin 2) - mutations account for 15% of ADPKD |
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Where is the chromosome of the gene located and name in child (juvenile polycystic kidney disease)
Protein associated? Type of mutation? |
PKHD1- locus on Chr. 6
- protein is fibrocystin - missense and truncating mutations |
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What is the TEMPO 3/4 Trial?
Was this effective? |
- Tolvaptan Efficacy and Safety in
Management of Polycystic Kidney Disease and Its Outcomes (TEMPO3/4) • Oral vasopressin V2 receptor inhibitor acting principally at the kidney cells affected by ADPKD (lowers cAMP which is increased in kidney and leads to cyst formation) - very effective |
