Ch 12 Pathoma Kidney and Urinary Tract Pathology Flashcards
What is the most common congenital renal anomaly?
Horseshoe kidney
Horseshoe kidney are ___ kidneys usually connected at the upper/lower pole. The kidney is abnormally located in the ___, since it gets caught on the ___ during its ascent/descent from the ___ to the ___.
conjoined; lower; lower abdomen; inferior mesenteric artery root; ascent; pelvis; abdomen
____ is absent kidney formation. May be __ or ___.
renal agenesis; unilateral; bilateral
Unilateral renal agenesis, leads to ___ of the existing kidney. ___ increases risk of renal failure later in life. Bilateral renal agenesis leads to ___, with these 3 developmental defects, aka ___.
hypertrophy; hyperfiltration; oligohydramnios (decrease in amniotic fluid); 1) lung hypoplasia, 2) flat face with low set ears, 3) developmental defects of the extremities; Potter sequence
Name the 3 defects of Potter sequence and what causes it.
1) lung hypoplasia; 2) flat face with low set ears; 3) developmental defects of the extremities; oligohydramnios (decrease in amniotic fluid)
Dysplastic kidney is a inherited/noninherited, ___ malformation of the ___, characterized by __ and ___ (often cartilage). Usually unilateral/bilateral. When bilateral, must be distinguished from ____.
noninherited; congenital; renal parenchyma; cysts; abnormal tissue; unilateral; inherited polycystic kidney disease (PKD)
Polycystic kidney disease is an inherited/noninherited defect leading to unilateral/bilateral enlarged/shrunken kidneys with __ in the renal __ and __. It presents in two forms, ___ and ___ forms.
inherited; bilateral; enlarged; cysts; cortex; medulla; autosomal recessive; autosomal dominant
The autosomal recessive form of PKD presents in ___, as worsening ___ and ___. Newborns may present with ___. It is associated with congenital ___ (leading to ___) and ___.
infants; renal failure; hypertension; Potter sequence; hepatic fibrosis; portal hypertension; hepatic cysts
Name 4 clinical presentations of portal hypertension
1) ascites; 2) congestive splenomegaly; 3) portosystemic shunts (esophageal varices, hemorrhoids, medusa capitae); 4) hepatorenal syndrome
The autosomal dominant form of PKD presents in ___ as ___ (due to increased __), __ and ___. It is due to mutation in the __ or __ gene. Cysts develop at birth/over time. It is associated with these 3 disorders.
young adults; hypertension; renin; hematuria; worsening renal failure; APKD1; APKD2; over time; 1) berry aneurysm; 2) hepatic cysts; 3) mitral valve prolapse (cysts in the kidney, liver, and brain)
Medullary cystic kidney disease is a inherited/noninherited defect leading to cysts in the ___. ___ results in enlarged/shrunken kidney and worsening ___.
inherited (autosomal dominant); medullary collecting ducts; parenchymal fibrosis; shrunken; renal failure
Name 5 congenital kidney diseases.
1) horseshoe kidney; 2) renal agenesis; 3) dysplastic kidney; 4) polycystic kidney disease; 5) medullary cystic kidney disease
Name the 3 congenital renal cystic diseases. Which are inherited? Which results in enlarged kidneys, which shrunken? Which is usually unilateral?
1) dysplastic kidney; 2) PKD; 3) medullary cystic kidney; PKD and MCKD; PKD; MCKD; usually unilateral: dysplastic kidney
Acute renal failure is an acute, severe decrease in ___ (develops within hours/days/weeks). The hallmark is ___ (increase in __ and __), often with ___. Can be divided into these 3 based on etiology
renal function; days; azotemia; BUN; creatinine; oliguria; prenrenal, postrenal, and intrarenal azotemia
Prerenal azotemia is due to ___ to kidneys (eg ___). The increased/decreased blood flow results in increase/decreased GFR, ___, and __. The ___ of fluid and BUN ensues (serum BUN:Cr ratio is greater/less than __). FENa is greater/less than __%, and urine osm is greater/less than ___.
decreased blood flow; cardiac failure; decreased; decreased; azotemia; oliguria; reabsorption; greater; 15; less than 1%; greater than 500mOsm/kg (tubular function remains intact so Na can be absorbed, and urine can be concentrated)
Postrenal azotemia is due to ___ of urinary tract upstream/downstream from kidney (e.g. ___). Decreased inflow/outflow results in inc/dec GFR, __, and ___.
obstruction; downstream; ureters; outflow; dec; azotemia; oliguria
During early stage of obstruction (post-renal azotemia), inc/dec tubular pressure forces BUN in to the blood (serum BUN:Cr ratio is g/l __). Tubular function remains intact, so FENa is g/l __% and urine osm is g/l __.
increased; greater than 15; less than 1%; greater than 500
During long-standing obstruction (post-renal azotemia), ___ damage ensues, resulting in inc/dec reabsorption of BUN (serum BUN:Cr ratio is g/l __). FENa is g/l __ and urine osm is g/l __.
tubular; decreased; less than 15; greater than 2% (decreased reabsorption of sodium); less than 500 (inability to concentrate urine)
What is the most common cause of acute renal failure?
Acute tubular necrosis (intra-renal azotemia)
Acute tubular necrosis is injury and necrosis of ___. __ cells plug __, and the resulting __ decreases ___. ___ are seen in the urine. Dysfunctional ___ results in inc/dec reabsorption of BUN (serum BUN:Cr ratio g/l __), inc/dec reabsorption of Na (FENa g/l __%) and urine osm g/l __.
tubular epithelial cells; necrotic; tubules; obstruction; GFR; brown, granular casts; tubular epithelium; decreased; less than 15; decreased; greater than 2%; less than 500 (inability to concentrate urine)
The etiology of acute tubular necrosis may be __ or __. Clinical features include these 3. ATN is reversible/irreversible, and often requires supportive __ since ___ can be fatal. Oliguria can persist for ___ before recovery, since tubular cells (__ cells) take time to reenter cell cycle and regenerate
1) oliguria with brown, granular casts; 2) elevated BUN and creatinine; 3) hyperkalemia (due to decreased renal excretion) with metabolic acidosis (due to dec excretion of organic acids); reversible; dialysis; electrolyte imbalances; 2-3 wks; stable
Acute tubular necrosis due to ischemia, is due to ___, which results in necrosis of tubules. It is often preceded by ___. These 2 segments of the nephron are particularly susceptible to ischemic damage
decreased blood supply; pre-renal azotemia; proximal tubule; medullary segment of thick ascending limb
Acute tubular necrosis due to nephrotoxicity, is due to ___ resulting in necrosis of tubules. The ___ is particularly susceptible. Name 6 causes and the most common one.
toxic agents; proximal tubule; 1) aminoglycosides (most common); 2) heavy metals (lead); 3) myoglobinuria (crush injury to muscle); 4) ethylene glycol (assoc with oxalate crystals in urine); 5) radio contrast dye; 6) urate (tumor lysis syndrome)
Acute tubular necrosis due to tumor lysis syndrome (chemo causes rapid death of large number of cells and nuclear material is released and turned to uric acid) can be prevented with __ and __ given prior to initiation of chemo.
hydration; allopurinol (purine analog that blocks xanthine oxidase from producing uric acid from xanthine and hypoxanthine - hypoxanthine can be recycled in salvage pathway to make more purines)
Acute interstitial nephritis is a ____ involving the interstitium and __, resulting in acute __ (___ azotemia). Causes include __, __, and __. Resolves with ___. May progress to ___.
drug-induced hypersensitivity; tubules; renal failure; intra-renal; NSAIDs, penicillin, diuretics; cessation of drug; renal papillary necrosis
Acute interstitial nephritis presents as __, __, and __ days to weeks after starting a ___. ___ may be seen in urine.
oliguria; fever; rash; drug; eosinophils
Renal papillary necrosis is necrosis of the ___. It presents with __ and __. Name 4 causes.
renal papillae; gross hematuria; flank pain; 1) chronic analgesic abuse (long term phenacetin or aspirin); 2) diabetes mellitus; 3) sickle cell trait or disease; 4) severe acute pyelonephritis
Nephrotic syndrome are ___ disorders characterized by ___, resulting in these 4 things.
glomerular; proteinuria (greater than 3.5 g/day); 1) hypoalbuminemia (pitting edema); 2) hypogammaglobulinemia (inc risk of infxn); 3) hyper coagulable state (due to loss of antithrombin III); 4) hyperlipidemia and hypercholesterolemia (fatty casts in urine)
Minimal change disease is a type of ___ syndrome. Usually due to ___, may be associated with __. There are normal/abnormal glomeruli seen on H and E stain, and __ may be seen in proximal tubule cells. MCD is the most common cause of nephrotic syndrome in ___.
nephrotic; idiopathic; Hodgkin lymphoma (Reed sternberg cells produce cytokines); normal; lipids; children
In minimal change disease, damage is mediated by __ from ___. There is a excellent/poor response to steroids. What is seen on EM? There are/are not immune complex deposits, which creates a positive/negative immunofluorescence (IF). There is selective ___ (loss of __, but not ___)
cytokines; T cells; excellent; effacement of foot processes (podocytes); not; negative; proteinuria; albumin; immunoglobulin
Focal segmental glomerulosclerosis (FSGS) is the most common cause of ____ syndrome in __ and __. Usually __, and may be associated with __, __, and __. There is focal (some __) and segmental (involving only part of the ___) ___ on HandE stain.
nephrotic; Hispanics; African Americans; idiopathic; HIV, heroin use, sickle cell disease; glomeruli; glomerulus; sclerosis
In focal segmental glomerulosclerosis what is seen on EM? There are/are not immune complex deposits, which creates a positive/negative immunofluorescence (IF). There is a excellent/poor response to steroids. Progresses to ___.
effacement of foot processes; are not; negative; poor; chronic renal failure
Membranous nephropathy is the most common cause of __ syndrome in __. Usually __, may be associated with these 4 things. It has a excellent/poor response to steroids, and progresses to ___.
nephrotic; caucasian adults; idiopathic; 1) hepatitis B or C; 2) solid tumors; 3) SLE (more likely to get nephritic syndrome, but if nephrotic, this is the type); 4) drugs (NSAIDs and penicillamine); poor; chronic renal failure
In membranous nephropathy, there is a thick ___ on H and E due to ___, which appears as a __ IF, and appears as sub epithelial deposits with ‘___’ appearance on EM.
glomerular basmenet membrane; immune complex deposition; granular; spike and dome (podocyte responds to deposit by creating additional BM creating a spike and dome appearance)
Membranoproliferative glomerulonephritis is seen as a thick ____ on H and E, often with a ‘___’ appearance. It is due to ___, and divided into 2 types based on ___. It has a excellent/poor response to steroids, and progresses to ___.
glomerular basement membrane; tram-track; immune complex deposition; location of deposits; poor; chronic renal failure
In type I of membranoproliferative glomerulonephritis, the ___ deposits are located ___. This type is associated with __ and __, and is more/less often associated with tram track appearance.
immune complex; sub endothelial; HBV and HCV; more
In type II of membranoproliferative glomerulonephritis, the ___ deposits are located ___. It is associated with ___, which is an ___ that stabilizes ___, leading to over activation of __, __, and low levels of circulating ___.
immune complex; intramembranous; C3 nephritic factor; autoantibody; C3 convertase; complement; inflammation; C3
Diabetes mellitus can lead to ____ syndrome because a high serum glucose leads to ___ of the vascular basement membrane resulting in ___.
nephrotic; nonenzymatic glycosylation (this leads to leaky vessels allowing protein to leak in leading to:) hyaline arteriolosclerosis
In DM, the glomerular ___ arteriole is more affected (has more hyaline arteriolosclerosis) than the ___ arteriole, leading to high/low glomerular filtration pressure. ___ injury leads to ___. Eventually progresses to ___ syndrome. It is characterized by ___ of the __ with formation of ___ nodules. __ slows progression of hyper filtration induced damage
efferent; afferent; high; hyperfiltration; microalbuminuria; nephrotic; sclerosis; mesangium (cells that hold together the vessels in the glomerulus); Kimmelstiel-WIlson; ACE-inhibitors (they prevent the further constriction of the efferent arteriole normally caused by angiotensin II)
___ is the most commonly involved organ in systemic amyloidosis. ___ deposits in the ___, resulting in __ syndrome. It is characterized by ___ under polarized/non-polarized light after staining with ___.
kidney; amyloid; mesangium; nephrotic; apple-green birefringence; polarized; congo red
Name 6 types of nephrotic syndrome
1) minimal change disease; 2) FSGS; 3) membranous nephropathy; 4) membranoproliferative glomerulonephritis; 5) diabetes mellitus; 6) systemic amyloidosis
Which 2 types of nephrotic syndrome are due to immune complex deposition? Which kind responds well to steroids? Which is the most common kind in caucasian adults? african americans? children? hispanics?
membranous nephropathy and membranoproliferative glomerulonephritis; MCD; membranous nephropathy; FSGS; children = MCD; FSGS
Nephritic syndrome are ___ disorders characterized by ___ and ___, leading to these 4 things.
glomerular; glomerular inflammation; bleeding; 1) limited proteinuria (less than 3.5 g/day - differentiates it from nephrotic syndrome); 2) oliguria and azotemia; 3) salt retention w/periorbital edema and HTN; 4) RBC casts and dysmorphic RBCs in urine
Biopsy of nephritic syndrome reveals ___, inflamed ___. ___ deposition activates ___, and __ attracts neutrophils, which mediate damage.
hypercellularity (due to neutrophils attracted by C5a); glomeruli; immune complex; complement; C5a
Poststreptococcal glomerulonephritis (PSGN) is a ___ syndrome that arises after ___ infection of the __ or __. It occurs with nephritogenic strains, and can/cannot occur after infection with non streptococcal organisms too.
nephritic; group A B-hemolytic streptococcal; skin (impetigo); pharynx; can
Poststreptococcal glomerulonephritis presents ___ after infection with these 4 symptoms. It is usually seen in __, but may occur in ___.
2-3 weeks; 1) hematuria (cola-colored urine); 2) oliguria; 3) HTN; 4) periorbital edema; children; adults
PSGN is seen as ___, inflamed __ on H and E. It is mediated by ___ (___ IF), and is seen as ___ on EM. Treatment is ___. Children rarely (1%) progress to ___. Some adults (25%) develop ___.
hypercellular; glomeruli; immune complex deposition; granular; subepithelial ‘humps’ (deposits start endothelial than move up through BM and eventually disappear on their own); supportive; renal failure; rapidly progressive glomerulonephritis (RPGN)
Rapidly progressive glomerulonephritis is a ___ syndrome that progresses to ___ in ___ (time). It is characterized by ___ in ___ on H and E stain, which are comprised of __ and ___. Clinical picture and __ help resolve etiology
nephritic; renal failure; weeks to months; crescents; Bowman’s space (of glomeruli); fibrin; macrophages; IF
Name 6 disorders that cause rapidly progressive glomerulonephritis, and which ones are linear, granular or negative on immunofluorescence
1) goodpasture syndrome (linear); 2) PSGN (granular); 3) diffuse proliferative glomerulonephritis (granular); 4) Wegener granulomatosis; 5) microscopic polyangitis; 6) Churg Strauss syndrome (last 3 are negative IF)
In Goodpasture syndrome, antibody against __ in __ and __ ___. It presents with these 2 symptoms, classically in ___. What is the IF pattern?
collagen; glomerular and alveolar basement membranes; hematuria and hemoptysis; young, adult males; linear (antibodies line up on the basement membrane)
What is the most common type of renal disease in SLE? What is the nephrotic syndrome SLE patients sometimes develop?
Diffuse proliferative glomerulonephritis (pts who die from SLE, usually die from this); membranous nephropathy
Diffuse proliferative glomerulonephritis is due to diffuse ___, usually found ___. What is the IF pattern?
antigen-antibody complex deposition; sub-endothelial; granular (immune complex deposition)
Wegener granulomatosis, microscopic polyangiitis, Churg strauss syndrome: which is associated with c-ANCA? which p-ANCA? which are not granulomatous? which is assoc with eosinophilia and asthma? What is the IF pattern?
WG; MP and CSS; MP; CSS; negative IF
What is the most common nephropathy worldwide?
IgA nephropathy
IgA nephropathy (aka ___ disease), is due to __ in __ of glomeruli. Presents during ___ as episodic gross or microscopic ___ with ___, usually following ___. ___ in the mesangium is seen on IF. May slowly/rapidly progress to ___.
Berger; IgA immune complex deposition; mesangium; childhood; hematuria; RBC casts; mucosal infections (e.g. gastroenteritis); IgA immune complex deposition; slowly; renal failure
Alport syndrome is a sporadic/inherited defect in ___. Results in __ and ___ of the glomerular ___. Presents as isolated __, __, and __.
inherited (most commonly X-linked); type IV collagen; thinning; splitting; basement membrane; hematuria; sensory hearing loss; ocular disturbances
Name 4 nephritic syndromes
1) poststreptococcal glomerulonephritis; 2) rapidly progressive glomerulonephritis; 3) IgA nephropathy; 4) Alport syndrome
Urinary tract infection is infection of ___, ___, or ___. Most commonly arises due to ascending/descending infection. There is increased incidence in females/males. Name 3 risk factors.
urethra, bladder, or kidney; ascending; females; 1) sexual intercourse; 2) urinary stasis; 3) catheters
Cystitis is infection of the ___. It presents with these 4 symptoms. ___ signs are usually absent. Urinalysis shows __ urine with greater than __ WBCs. Dipstick shows positive __ and __ (bacteria convert __ to __). Culture shows greater than __ colony forming units.
bladder; 1) dysuria; 2) urgency; 3) suprapubic pain; 4) urinary frequency; systemic signs (fever); cloudy; 10; leukocyte esterase (due to pyuria); nitrites; nitrates; nitrites; 100,000
Name 5 pathogens that cause cystitis. Name the most common, and any fun fact.
1) E coli (80%); 2) staphylococcus saprophyticus (inc incidence in young, sexually active women - though E coli still more common here); 3) Klesbsiella pneumoniae; 4) Proteus mirabilis (alkaline urine with ammonia scent); 5) Enterococcus faecalis
Sterile pyuria is the presence of pyuria (greater than __ WBCs, and ___) with a positive/negative urine culture. It suggests __ due to these 2 pathogens.
10; leukocyte esterase; negative; urethritis (dominant presenting sign is dysuria); Chlamydia trachomatis; Neisseria gonorrhoeae
Pyelonephritis is infection of the __. Usually due to ascending/descending infection. Increased risk with ___. Presents with these 4 symptoms in addition to symptoms of cystitis (name 4).
kidney; ascending; vesicoureteral reflux; 1) fever; 2) flank pain; 3) WBC casts; 4) leukocytosis; 1) dysuria; 2) urgency; 3) frequency; 4) suprapubic pain
Name the 3 most common pathogens causing pyelonephritis
1) E coli (90%); 2) enterococcus faecalis; 3) klebsiella species
Chronic pyelonephritis is __ and __ due to multiple bouts of acute pyelonephritis. Due to ___ (children) or ___ (e.g. BPH or cervical carcinoma). It leads to ___ with ___.
interstitial fibrosis; atrophy of tubules; vesicoureteral reflux; obstruction; cortical scarring; blunted calyces
Chronic pyelonephirits: In vesicoureteral reflux, scarring at __ and ___ is characteristic. Atrophic tubules containing ___ material resemble __ (‘___’ of the kidney). ___ may be seen in urine.
upper and lower; eosinophilic proteinaceous; thyroid follicles; thyroidization
Nephrolithiasis is the precipitation of a ___ as a ___. Risk factors include high ___ in the urinary filtrate and low ___. Presents with these 3 symptoms. Stone is usually passed within minutes/hours/days/weeks. If not __ may be required.
urinary solute; stone; concentration of solute; urine volume; 1) colicky pain; 2) hematuria; 3) unilateral flank tenderness; hours; surgical intervention
What is the most common type of nephrolithiasis? 2nd most common? 3rd most common? Most commonly seen in children? Most common seen in patients with gout?
calcium oxalate and/or calcium phosphate; ammonium magnesium phosphate; uric acid; cystine; uric acid
Calcium oxalate/calcium phosphate stones are most commonly caused by ___. ___ and its related causes must be excluded. It is also seen with __ disease. Treatment is ___.
idiopathic hypercalciuria; hypercalcemia; Crohn’s; hydrochlorothiazide (calcium sparing diuretic)
Ammonium magnesium phosphate kidney stones are most commonly caused by ___ with ___ (name 2). Acidic/alkaline urine leads to formation of stone. Classically results in __ calculi in renal __, which act as a nidus for __. Tx involves ___ and ___.
infection; urease-positive organisms (proteus vulgaris or Klebsiella); alkaline; staghorn; calyces; urinary tract infections; surgical removal (due to size); eradication of pathogen (to prevent recurrence)
Uric acid kidney stones risk factors include ___ climates, high/low urine volume, and acidic/alkaline pH. Most common stone seen in __ patients. ___ (as seen in leukemia or myeloproliferative disorders) increases risk.
hot arid; low; acidic; gout; hyperuricemia
Treatment of uric acid kidney stones involves __ and __ of urine (with ___). ___ is also administered in patients with gout.
hydration; alkalinization; potassium bicarbonate; allopurinol
Cystine is a rare cause of ___. It is associated with ___, a genetic defect of tubules that results in ___. May form ___ calculi (seen more in ___). Tx involves __ and __ of urine.
nephrolithiasis; cystinuria; decreased reabsorption of cysteine; stag horn; children; hydration; alkalinization
End stage kidney failure may result from these 4 insults.
1) glomerular; 2) tubular; 3) inflammatory; 4) vascular
Name the 3 most common causes of end stage kidney failure
1) diabetes mellitus; 2) hypertension; 3) glomerular disease
Name 6 clinical features of chronic renal failure
1) uremia; 2) salt and water retention with resultant HTN; 3) hyperkalemia with metabolic acidosis; 4) anemia due to decreased erythropoietin production; 5) hypocalcemia due to dec 1-alpha hydroxylation of vit D; 6) renal osteodystrophy
In uremia, there are increased ___ in blood (___), which results in these 6 features.
increased nitrogenous waste products; azotemia; 1) nausea; 2) anorexia; 3) pericarditis; 4) plt dysfunction (inhibits plt adhesion and aggregation); 5) encephalopathy with asterixis; 6) deposition of urea crystals in skin
Anemia caused by chronic renal failure is due to decreased ___ production by renal ___ cells.
erythropoietin; peritubular interstitial
In chronic renal failure, hypocalcemia occurs due to decreased ___ of ___ by ___ cells and due to ___.
1-alpha hydroxylation of vitamin D by proximal renal tubule cells; hyperphosphatemia (high phosphate binds w/calcium so free calcium is decreased)
In chronic renal failure, renal osteodystrophy occurs due to these 3 things
1) secondary hyperparathyroidism; 2) osteomalacia; 3) osteoporosis
Treatment of chronic renal failure involves __ or __. __ often develop within enlarged/shrunken end stage kidneys during ___, which increases risk for ___.
dialysis; renal transplant; shrunken; dialysis; renal cell carcinoma
Angiomyolipoma is a ___ comprised of these 3 things. It has increased frequency in ___.
hamartoma (benign); 1) blood vessels; 2) smooth muscle; 3) adipose tissue; tuberous sclerosis
Renal cell carcinoma is a malignant/benign __ tumor arising from ___. It presents with this classic triad - the three commonly/rarely occur together. __ is the most common symptom. These 3 other symptoms may also be present.
malignant; epithelial; kidney tubules; 1) hematuria; 2) palpable mass; 3) flank pain; rarely; hematuria; 1) fever; 2) weight loss; 3) paraneoplastic syndromes
Paraneoplastic syndromes caused by renal cell carcinoma include production of these 4 things (and what they can cause)
1) EPO (reactive polycythemia); 2) renin (HTN); 3) PTHrP (hypercalcemia); 4) ACTH (Cushing syndrome)
Renal cell carcinoma rarely may present with right/left-sided ___. Involvement of the right/left renal vein by carcinoma blocks drainage of the right/left spermatic vein leading to ___. Right/left spermatic vein drains directly into the IVC, hence right/left varicocele is not seen.
left; varicocele; left; left; varicocele; right; right
Gross exam of a RCC reveals a ___ mass. Microscopically, the most common variant exhibits ___ (‘___’ type). Pathogenesis involves loss of ___ gene, which leads to increased __ (promotes growth) and increased __ transcription factor (increases __ and __)
yellow; clear cytoplasm; clear cell; VHL (3p; tumor suppressor gene); IGF-1; HIF; VEGF and PDGF
Renal cell carcinoma tumors may be hereditary or sporadic. Sporadic tumors classically arise in __ as multiple/single tumor in the __ of the kidney. Major risk factor is ___. Hereditary tumors arise in __ and are often unilateral/bilateral.
adult males (avg age is 60); single; upper pole; cigarette smoking; younger adults; bilateral
Von Hippel-Landau disease is a autosomal/x-linked dominant/recessive disorder associated with inactivation of the ___ gene leading to increased risk for __ and __.
autosomal dominant; VHL gene; hemangioblastoma of the cerebellum; renal cell carcinoma
Staging of renal cell carcinoma: T - based on __ and involvement of the ___. N - spread to ___.
size; renal vein (occurs commonly and increases risk of *hematogenous spread (unique for carcinoma which favor lymphatic spread) to lungs and bone; retroperitoneal lymph nodes
What is the most common malignant renal tumor in children? What is the avg age of onset?
Wilms tumor; 3
Wilms tumor is a malignant/benign kidney tumor comprised of ___, primitive __ and __, and __ cells.
malignant; blastema (immature kidney mesenchyme); glomeruli; tubules; stromal
Wilms tumor presents as a small/large, unilateral/bilateral flank mass with __ and __ symptoms. Most cases are sporadic/syndromic. Name 3 syndromic causes.
large; unilateral; hematuria; HTN (due to renin secretion); sporadic (90%); 1) WAGR syndrome; 2) Denys-Drash syndrome; 3) Beckwith-Wiedmann syndrome
What does WAGR syndrome stand for? It is associated with ___ of __ suppressor gene (located at ___)
Wilms tumor, Aniridia (absence of the iris), Genital abnormalities, and mental/motor Retardation; deletion; 11p13
Name the 3 components of Denys-Drash syndrome. It is associated with mutations of ___.
1) Wilms tumor; 2) progressive renal (glomerular) disease; 3) male pseudohermaphroditism; WT1
Name the 4 components of Beckwith-Wiedemann syndrome. It is associated with mutations in ___ gene cluster (imprinted genes at ___), particularly ___.
1) Wilms tumor; 2) neonatal hyperglycemia; 3) muscular hemihypertrophy; 4) organomegaly (including tongue); WT2; 11p15.5; IGF-2
Name 3 types of lower urinary tract carcinomas, and th most common
1) urothelial (transitional cell) carcinoma (most common - usually arises in bladder); 2) squamous cell carcinoma; 3) adenocarcinoma
Name 3 renal neoplasias
1) angiomyolipoma; 2) renal cell carcinoma; 3) wilms tumor
Urothelial carcinoma is a benign/malignant tumor arising from the ___ of these 4 areas. Major risk factor is __. Name 4 additional risk factors
malignant; urothelial lining; renal pelvis, ureter, bladder, urethra; cigarette smoking; 1) naphthylamine; 2) azo dyes; 3/4) long term cyclophosphamide or phenacetin use
Urothelial carcinoma is generally seen in older/younger adults. Classically presents with painful/painless ___. Arises via 2 distinct pathways: __ or __. Tumors are often focal/multifocal and recur (“__ defect”)
older; painless hematuria; flat; papillary; multifocal; field defect
In the flat pathway of urothelial carcinoma, tumor develops as a high/low grade flat tumor and then __. Associated with ___.
high; invades; early p53 mutations
In the papillary pathway of urothelial carcinoma, tumor develops as a high/low grade papillary tumor that progresses to a high/low grade papillary tumor and then __.
low; high; invades (not associated with early p53 mutations)
Squamous cell carcinoma is a benign/malignant proliferation of ___ cells, usually involving this part of the lower urinary tract. Arises in a background of __, since normal __ surface is not lined by squamous epithelium)
malignant; squamous; bladder; squamous metaplasia; bladder
Name 3 risk factors for squamous cell carcinoma of the lower urinary tract and who you see it in
1) chronic cystitis (older woman); 2) Schistosoma haematobium infection (Egyptian male; embeds itself in bladder wall causing chronic irritation leading to metaplasia); 3) long standing nephrolithiasis (chronic irritation leading to metaplasia)
Adenocarcinoma of the bladder is a benign/malingnat proliferation of __. Arises from one of these 3 possibilities.
1) urachal remnant (fetal duct that connects fetal bladder with yolk sac so it can drain waste there); 2) cystitis glandular (metaplasia due to chronic irritation); 3) exstrophy (congenital failure to form caudal portion of the anterior abdominal and bladder walls)
Urachus normally runs from __ to the __ where it can drain waste from the fetal __ in to the __. It is a duct that is lined by __ cells. If there is a remnant, it can eventually cause ___.
dome of the bladder; umbilical cord; bladder; yolk sac; glandular; adenocarcinoma
