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17 Cards in this Set

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What is found at 11p13?
Associated with?
WT1 gene- Wilm's tumor)
Mutation in this gene causes agenesis or reduced size of kidney
SPRY2
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 flowpredisposes to bacterial infections
b. Fusion of upper of
lower poles of kidney
– Usually asymptomatic
Most common cause of an abdominal mass in a newborn ‐ Palpable flank mass in otherwise healthy infant
multicystic renal dysplasia
is a hereditary disorder of the renal
proximal tubule’s reabsorption of filtered cystine and dibasic amino acids (lysine, ornithine, arginine)
cystinuria
what are the amino acids associated with cystinuria?
COAL
cystine
ornithine
arginine
lysine
Differentiated betweeen cysteine and cystine
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)
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
1. Type I now called?
2. Type II and III now called?
1. Type A
2. Type B
all 4 amino acids excreted in
high concentration in urine – mutation in SLC3A1
gene on Chr 2p1.3
type I or Type A cystinuria
(incomplete recessiveness) elevated amino acid excretion but variable intestinal absorption – mutation in SLC7A9 gene on Chr 19q13.1
type II and III aka type B cystinuria
What is the primary defect and findings of polycystic kidney disease?
- 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
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
What is 25-40$ of cases of ADPKD occur with/without?
new mutation causes w/o family history
which of the PKD's (1,2) cause most cases of ADPKD and which protein is used?
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
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
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