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68 Cards in this Set
- Front
- Back
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What is the normal weight and length of the kidneys?
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150 grams
11 cm length |
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What are 2 general categories of renal cystic diseases?
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-Congenital
-Acquired |
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What are 2 ways that congenital renal cysts can form?
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-Via Maldevelopment
-Due to genetic defect (either dominant or recessive) |
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What are 2 categories of Acquired cystic diseases?
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-Simple cystic disease
-Cystic disease due to Kidney Failure |
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What is Cystic Renal Dysplasia?
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A SPORADIC disorder withOUT Family Clustering
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What distribution can be seen in Cystic Renal dysplasia?
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Either unilateral or bilateral
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What is the typical GROSS appearance of cystic renal dysplasia? (3 findings)
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-Enlarged kidneys
-Extremely irregular -Multiple cysts up to sev CM in diameter |
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What is a microscopic HALLMARK of cystic renal dysplasia?
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Little bits of CARTILAGE in the kidneys
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What are 4 microscopic features seen in Cystic Renal Dysplasia?
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-Disorganized architecture
-Immature mesenchyme -Cartilage!!! -Immature collecting ducts |
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With what 3 abnormalities are most cases of cystic renal dysplasia associated?
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-Ureteropelvic obstruction
-Ureteral agenesis -Atresia |
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Is Renal cystic Dysplasia congenital or acquired?
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Congenital - one of the more common congenital disorders actually
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What is a fairly common ACQUIRED form of renal cysts?
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Simple renal cysts
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How are simple renal cysts seen?
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By ultrasound
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What does the development of simple cysts correlate with?
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Age
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What age does NOT normally have simple cysts?
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Under 30 yr old
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What are the 2 general Gross morphology changes seen in ADPKD?
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-Very large kidneys - volumes of 500-1500 ml (N is 150 ml)
-Long kidneys of 15-30 cm |
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What is the Incidence of ADPKD in live births?
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1/1000
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How many Americans are affected by ADPKD?
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~500,000 of all races
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How does the incidence of CF in live births and Americans compare to that of ADPKD?
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-Less common in live births 1/2500
-Fewer affected Americans ~30,000 |
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Why does CF affect so fewer Americans than ADPKD?
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By CF manifests itself earlier (in childhood) and is more lethal
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What are 3 notable ASSOCIATIONS with ADPKD? What is their frequency?
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Mitral valve prolapse - 25%
Brain aneurysms ~10% Gout - COMMON |
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What protein is defective in a large % of ADPKD cases?
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POLYCYSTIN
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What is the nature of the Polycystin protein like in general?
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Very large with the capacity for many mutations!
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What implication does the fact that the Polycystin gene can have many mutations have for lab testing for ADPKD?
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It is impossible to detect a mutation in a given patient
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What is the chromosome defect in 85% of ADPKD cases?
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Short arm (p) of Chromosome 16
(Polycystin 1) |
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What is the Ch' defect in Polycstin 2?
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4q
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How does a gene defect in Polycystin cause ADPKD?
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We don't know
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What is a very important structure on renal epithelial cells that detects urine flow?
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Cilia
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How do the cilia transform urinary flow into a signal?
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By calcium influx
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What are 2 proteins within the cilium that are important for normal signalling in renal epithelial cells regarding urinary flow?
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Polycystin 1 and 2
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Why do changes in urine flow signalling create cysts?
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We don't know
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In many cases of ADPKD, why are cysts lined by cells that are HOMOZYGOUS for the PKD mutation, considering that it is auto dominant?
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Because of the 2-hit hypothesis
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What is the 2hit hypothesis?
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Patients are born with 1 germline mutation of a PKD allele, and acquire a somatic mutation in the other.
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How does the progression of PKD compare between type I and type II?
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-18 yr old w/ type I will show more cysts than in type II
-41 yr old w/ type I will show much more having developed than in type II |
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At what age do patients with type I PKD BEGIN to show ESRD or death?
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~40 yrs old
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By what age are MOST patients with type I PKD in ESRD or dead?
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60
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What implication does the fact that PKD presents after reproductive years have?
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Its transmission from parent to child is very likely and easy.
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How does the onset of ESRD and death in PKD type II compare to that in type I?
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It occurs LATER - because fewer cysts have developed by the age of 41 in type II than in type I
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What % of subjects on dialysis or with ESRD have ADPKD?
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only ~5%
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So is ADPKD a common cause of renal failure in this country?
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NO
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What are the top 2 causes of renal failure in this country?
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-Diabetes
-Glomerular disease |
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What is an even less common cause of renal failure than ADPKD?
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ARPKD
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What is live-birth incidence of:
-ADPKD -ARPKD |
ADPKD = 1/1000
ARPKD = 1/10000 |
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What is the protein product of the defective gene in ARPKD?
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Fibrocystin/polyductin
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Where is Fibrocystin/polyductin protein found?
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Also in the cilia of renal epithelium
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Where within the kidneys do the cysts in ARPKD form predominantly?
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In the collecting ducts mostly but also in the cortex/medulla
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What is the muddiest form of inherited PKD?
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Medullary cystic disease
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How does the size of kidneys in Medullary cystic disease compare to those in ADPKD and ARPKD?
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Kidneys in MCD are SMALL
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Where are the cysts that form in MCD found within the kidneys?
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In the medulla, not the cortex
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What is Medullary cystic disease also sometimes referred to as?
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Nephronophtisis
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What is MCD/Nephronophtisis in general? What is the inheritance pattern?
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A diverse group of rare conditions - can be EITHER dominant or recessive
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How can MCD affect blood pressure?
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BP may remain normal due to salt wasting
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How does the age of progression to renal failure in MCD compare to that in ADPKD?
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Evolution to renal failure occurs much earlier in MCD, ie in youth
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What is the Auto Dominant form of Medullary cystic disease associated with?
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A mutation in Tamm-Horsfall protein
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And what is Tamm-Horsfall protein?
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A protein that is secreted from the surface of renal tubular epithelial cells in the TAL (thick asc limb of LOH)
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What is a medication that can cause renal cysts to develop?
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Lithium
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What is the most common form of acquired cystic kidney disease?
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ACKD (acquired cystic kidney disease)
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When are acquired cysts commonly seen in the kidneys?
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In end-stage kidneys
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What do ACKD in end-stage kidneys have the potential for?
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Cancer formation
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What does the development of cysts in end-stage kidneys correlate with?
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The # of years the patient has been on dialysis
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What can be seen on histology in complex cystic lesions of the kidney?
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Both Clear cell carcinoma and Papillary carcinoma
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What is NOT a cystic kidney disease, though it is often confused as one?
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Medullary sponge kidney
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What actually are the structures that appear as cysts in medullary sponge kidney?
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Dilated collecting ducts
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How common is medullary sponge kidney?
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Fairly common - 1/100 by IVP exam
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What is medullary sponge kidney associated with?
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Nephrolithiasis - kidney stones
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What is medullary sponge kidney NOT associated with?
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It is NOT a cause of kidney failure
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What is the lifetime incidence of kidney stones in
-males -females |
Males: 1/10
Females: 1/20 |
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Is medullary sponge kidney congenital or acquired?
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Congenital, but sporadic, and without a defined inheritance pattern.
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