Renal Pathology - Dr. Dobson Part 2 Flashcards
Adult Polycystic kidney disease
inheritance
what happens on kidney
outcome
AD
- VERY Large muticystic kidneys, liver cysts,
- BERRY ANEURYSMS
CKD at 40-60yo
Adult Polycystic Kidney Disease SX
- hematuria
- flank pain
- UTI
- nephrolithiasis
- htn
Childhood Polycystic kidney disease
inheritance
what happens on kidney
outcome
AR
- Enlarged kidneys
- oval long cysts on kidneys at birth
death in infancy or childhood, variable
Childhood Polycystic Kidney Disease
SX
Hepatic fibrosis
Medullary Sponge kidney
inheritance
what happens on kidney
outcome
none
medullary cysts on excretory urography
benign
Medullary Sponge kidney SX
hematuria
UTI
recurrent stones
Familial Juvenile Nephronophthisis
inheritance
what happens on kidney
outcome
AR
- Corticomedullary cysts
- Shrunked kidney
progressive renal failure starting at childhood (ESRD in 5-10years)
Familial Juvenile Nephronophthisis
SX
salt wasting, polyuria
low growth
anemia
Multicystic Renal Dysplasia
inheritance
what happens on kidney
outcome
none
- irregular kidneys + variable size cysts + immature CD
- enlarged
RF (bilateral) surgery curable (unilateral)
Multicystic Renal Dysplasia
SX
with other renal anomalies
Acquired renal cystic disease
inheritance
what happens on kidney
outcome
none
cystic degeneration during ESRD
need dialysis
Acquired renal cystic disease SX
hemorrhage,
erythrocytosis,
neoplasia
Simple Cysts
inheritance
what happens on kidney
outcome
none
- single or multiple cysts (fluid filled)
- normal kidney size
benign
Simple Cysts
SX
microscopic hematuria
Autosomal Dominant Polycystic Kidney Disease (ADPKD) sx start when and is it bilateral or unilateral and what is inherited
bilateral
4th -5th decade (when the other POLYCYSTIN 1,2 allele gets mutated) (at birth one allele is mutated)
ADPKD involves what gene on what chr (2)
PKD1 gene chr 16p13.3 encoding polycystin-1 (matrix interactions on tubules - more Ca) MORE SEVERE
PKD2 on chr 4q21 encoding polycystin-2 (Ca channel on tubules = increase CA+ absorption) LESS SEVERE
ADPKD is accelerated in what pts
Blacks
esp with htn or sickle cell
DX ADPKD is done how
1. radiologic imaging both kidneys are very large and heavy many cysts all over the kidney (can see in liver also) CT scan used 2. Berry aneurysm 3. mitral valve prolapse
Autosomal Recessive PKD (ARPKD) looks like what inside
sponge like look
+ dilated elongated channels
(smooth on surface)
ARPKD mutation and chr
- PKHD1 gene on chr 6p21-p23
encoding FIBROCYSTIN
Medullary Sponge Kidney in what location in kidney, renal function, looks like what on kidney
- CD in medulla dilations
- normal renal function
- papillary ducts in medulla DILATED with small cysts
Medullary sponge kidney can get scarring from what
pyelonephritis
Nephronophthisis location in kidney
- at medulla cortex junction, sometimes medulla cysts
2. cortical tubulointerstitial damage
Familial Nephronophthisis gene
NPHP1 - NPHP11 encoding NEPHROCYSINS,
JBTS2
most common cause of ESRD in children and adolescents
Nephronophthisis
Nephronophthisis DX how
- polyuria + polydipsia (not concentrating), tubular acidosis, Na wasting
- unexplained Chronic RF in children + chronic tubulointerstitial nephritis biopsy + FH **
Multicystic Renal Dysplasia can lead to what
- ureteropelvic obstruction,
2. ureteral agenesis or atresia
Simple cysts location in kidney and size and ultrasonography look
- cortex NO SX usually
- 1cm - 10cm (can distend or hemorrhage and cause pain)
- smooth contours, avascular, fluid inside (contrast to tumor)
hydronephrosis
renal atrophy (swelling of kidneys from fluid backflow)
how to image obstruction
ultrasonography
partial bilateral obstruction in urinary tract SX
- polyuria + inability to concentrate urine
- distal tubular acidosis
- HTN*
SX after complete urinary tract obstruction is resolved
post obstructive diuresis (massive fluid and NaCl loss)
Urolithiasis is what and prevalence
kidney stones
male
what increases risks of kidney stones
- cystinuria , primary hyperoxaluria
- HGPRT def
- uric acid buildup
- Mg ammonia phosphate
- CA oxalate + phosphate (sarcoid, hypercalcemia, hyperparathyroidism)
Image kidney stone
CT no contrast is hallmark
however US can be done
Mg ammonium phosphate stones are formed when
after urea-splitting bacteria infection (Proteus, Psudomonas, Klebisella, some staph and enterococci) UREA —-> AMMONIA
Mg ammonium phosphate stones are formed causes what to kidney
staghorn calculi (large part of renal pelvis) infection and obstruction of the salt formed
Uric acid stones are formed from what
- hyperurecemia
2. urine under pH 5.5 (insoluable)
risk of uric acid formation
male
age
obesity
large stones can cause what sx
also obstruction predisposes to what
hematuria
infection
TX for kidney stone pt that has passed the stone and does not have high risk or recurrence
if stone recurrs then Thiazide , citrate, allpurinol either can be given
Papillary adenoma is what and same as what and also associated with
small adenomas in tubules esp papillaries
= same as low grade renal cell carcinoma
= trisomies 7 and 17
oncocytoma is what and what do you see
mass (on one of teh POLES)* + flank pain + hematuria
- mahogany brown with central white stellate scar**
- large Eosinophilic cells + scattered nuclei
Oncocytoma is what kind of cancer + overabundance of what organelle
benign
many scattered nuclei (pink pink cells)
Renal Cell Carcinoma prevalence and inheritance
male and 6th decade (not inherited)
younger if AD
most common renal cancer + 4 types
Renal Cell Carcinoma
- Von Hippel- Lindau (VHL) syndrome
- Hereditary Leiomyomatosis
- Hereditary papillary carcinoma
- Birt - Hogg Dube syndrome
VHL syndrome is what and what happens
- renal cysts of renal carcinoma
- can be hereditary and sporatic
- hemangioblastoma of CNS
Hereditary Leiomyomatosis is what and what happens
- mutation in FH gene (Fumarate hydratase)
- aggressive and metastatic papillary carcinoma
- cutaneous and uterine leiomyomata
Hereditary Papillary carcinoma is what and what happens and mutation
- AD
- multiple bilateral tumors in papillaries
- mutation in MET proto-oncogene
Birt-Hogg Dube syndrome is what and what happens SX and mutation
- AD
- skin (fibrofolliculomas, trichodiscomas, acrochordons) , Lung (cysts/blebs), Renal tumors
- BHD gene (Folliculin)
renal cell carcinoma risks to increase this occurence
- smokers
- obesity
- htn
- estrogen therapy unopposed
- abstesto, petroleum, heavy metals
- ESRD, CKD, cystic disease, tuberous sclerosis*
TSC associated with what cancer
angiomyolipoma (most common in heart) also renal
BENIGN
most potent carcinogen in industries causing lung and bladder cancer
Polycyclic hydrocarbons
renal cell cancer location
POLES of the kidney —- > can extend into ureter and Collecting system
RCC likes what
to invade into veins
can go into IVC and testicular vein
stage 3 at this point
how to see RCC in vessel image
CT contrast or color flow US
Clear Cell Carcinoma comes from what and looks like what
- proximal tubular epithelium
- yellow -gray -white (yellow lipid accumulation) (gray-white from necrosis)
= well confined and distort the kidney shape
Clear Cell Carcinoma grows how and cells have what in them and can look like
- trabecular (cordlike) OR tubular (tubules looking)
- clear and granular cytoplasm + glycogen and lipids
- atypical and bizarre nuclei + giant cells
most common RCC
Clear cell carcinoma (familial 95%) + most are VHL syndrome
Clear cell carcinoma mutation and chr and gene
what does this do
- VHL gene 3p25.3 chr 3 + other allele gene hypermethylated
- VHL gene degrates HIF 1 which if active causes growth (IGF-1, MYC) and angiogenesis (VEGF)
Von Hipple Lindau Disease CAUSES 1 main thing and can lead to what other 3 things
AD causing Hemangioblastomas **in CNS (cerebellum and retina)
cysts in pancreas, liver, kidney
RCC (clear cell carcinoma)
Pheochromocytoma
Papillary Carcinoma mutation and associated with
- 3p deletion (like in CCC)
2. trisomy 7 and 17, loss of Y chr
Papillary Carcinoma location
Distal Convoluted Tubule
Papillary Carcinoma cells involved and what you see in stain
- FOAM cells interstitial in papillary cores
- Psammoma bodies*****
- scanty very vascular stroma
Chromophobe carcinoma cells seen and location and mutation
- pale eosinophillic cytoplasm, halo around nuclei
- many chr losses, extreme hypodiploidy
- CD like in oncocytoma (very GOOD prognosis)
Xp11 translocation carcinoma involves what mutation and gene
and is what
- TFE3 gene on chr Xp11.2
2. type of RCC
Collecting Duct Carcinoma other name and what type of cancer and location
and what happens
- Bellini Duct Carcinoma
= type of RCC very uncommon - CT in medulla (similar to medullary carcinoma seen in Sickle cell)
- fibrotic stroma + malignant gland cells
RCC SX Triad and most common SX
usually asymptomatic only some
- hematuria (microscopic)
- flank pain
- palpable mass
usually noticed during over 10cm large = fever, malaise, weakness, WL
RCC DX and one of the most missed for what reasons Examples
- has so many paraneoplastic sxs that you dont think kidney (or seen as side effect of cancer tx)
= polycythemia or anemia = hypercalcemia = htn = hepatic dysfunction = feminization or masculinization = cushing = leukemoid reaction, amyloidosis
Renal Pelvic Tumor SX and location and associated with
- hematuria noticeable (usually seen wen small), palpable hydronephrosis, flank pain
- 50 % with bladder urothelial tumor + renal pelvis
- Lynch Syndrome
2.
Renal Pelvic Tumor prognosis and reason
poor
= infiltration of wall of pelvis and calyces in common even if small
Wilms tumor (nephroblastoma) prevalence and 3 associations grouping it**
2yo-5yo
- WAGI /R syndrome
- Denys-Drash syndrome
- Beckwith- Wiedemann Syndrome (BWS)
WAGI /R syndrome what and mutation and genes/chr
Wilms tumor Aniridia Genitourinal anomalies Intellectual disability = 11p13 (WT1 + PAX6)
Denys -Drash Syndrome is what
- gonadal dysgenesis
- early nephropathy (RF)
= mesangial sclerosis - Wilms tumor
- gonadoblastoma
Beckwith - Wiedemann Syndrome (BWS)
organomegally, macroglossia, hemihypertrophy, omphalocele
+ ADRENAL cortex large cells
= increased risk of Wilms tumor
Wilms tumor cells involved and what the 3 types are + mutation that is resistant to chemo
- sheets of SMALL BLUE CELLS = Blastemal
- Abortive tubules + glomeruli = Epithelial
- Fibroblastic + myxoid = Stromal
= Mutation in TP53
Retroperitoneal fibrosis (RPF) is also called and what happens
Ormond Disease
= extensive fibrosis in the retroperitoneum usually anterior L4, L5 —-> entrapment and obstruction of retroperitoneal structures like URETERS
Retroperitoneal fibrosis (RPF) explanation to the reason it happens
autoimmune against CEROID leaked through arterial wall by atheromatous plaques
(IgG disease)
RPF is also associated with and biopsy shows
meds (migrane meds, methyldopa, BP meds)
Systemic Idiopathic Fibrosis
Calcified mass is shown in retroperitoneum
Cystitis TRIAD **
- polyuria (every 15min-20min)
- dysuria (burning during urination)
- Lower ABD pain suprapubic
most common organism causing cystitis followed by other 3 possible ones
- E. Coli
- Proteus
- Klebsiella
- Enterobacter
Interstitial cystitis
unpleasant pain, pressure, UTI sx more then 6weeks
AND NO infection or cause
Cystoscopic findings of interstitial cystitis
- mucosal fissures
- punctuate hemorrhages (glomerulations)
- Mast cells found
Malakopakia is what
defective phagocytes
= chronic bacterial infection (usually E. Coli)
= chronic inflammatory reaction
cell seen in Malakopakia
Michaelis Gutmann bodies
Ca in large lysosomes in defective Macrophages
Polypoid cystitis
inflammation from irritation to bladder mucosa (usually from catheters or instrumentation)
= broad bulbous polypoid projections + EDEMA in ureter
Polypoid cystitis can be mistaken for
papillary urothelial carcinoma
cystic glandularis + cystitis cystica
interstitial inflammation or metaplasia (adenocarcinoma)
Squamous Metaplasia
from chronic injury
if extensive keratinizing squamous metaplasia –> dysplastic lesion and SCC
nephrogenic adenoma
top layer ureter is replaced by cuboidal cells (papillary growth pattern)
= not true metaplasia
= can infiltrate to detrusor muscle
Bladder cancer prevalence
4th most common in men
95% are from epithelial origin + most common from urethelium
Bladder cancer prognosis is best determined by
if it has invaded to muscularis propria = DETRUSOR MUSCLE
Bladder cancer risks
smoking
aryl amine exposure
cyclophosphamide
analgesic use
TX urothelial carcinoma of bladder
depends on invasion to detrusor muscle
- no muscle invasion = resect , intravesicle chemo
- muscle invasion = cystectomy, cystoprostatectomy , or radiation , chemo
urothelial carcinoma of bladder usually spreads to where
peritoneum, liver, lung, bone
most common child sarcoma and most common adult sarcoma
- rhabdomyosarcoma (grape-like mass = botryoides)
2. Leiomyosarcoma
urethritis nongonoccal reasons men and women
- Chlamydia , then Mycoplasma
2. cystitis in women, prostatitis in men
urethral caruncle is what
inflamed granulation tissue (older F)
RED on opening of urethra
Condyloma acuminatum is from what
tumor on penis
HPV 6 and HPV 11
Peyronie disease
microvascular trauma causing fibrosis —-> sclerosing chronic inflammation
(on the top side of penis above the corpus cavernosum)
Peyronie disease TX
Collagenase clostridium histolyticum,
Verapamil,
INF
Squamous Neoplasia of penis is associated with what and 2 types
HPV
- Bowen Disease
- Bowenoid Papulosis
Bowen Disease is what, who, what can it lead to
- penile shaft and scrotum older men
- 1 thickened gray/white plaque
- can lead to SCC
Bowenoid Papulosis is what, who, and can lead to
- sexually active young men
- many red brown papular lesions, associated with HPV 16
- regress spontaneously
Non-HPV associated Squamous Neoplasia of penis
Balanitis Xerotica Obliterant
= on foreskin older patients
= high SCC risk
3 risks of SCC of penis
- HPV
- smoking
- Lichen Sclerosis et atrophicus (balanitis xerotica obliterans)
- low income low hygiene areas
protection against penile SCC
circumcision
E6 and E7 do what
HPV proteins
E6 = inhibit p53 and increase TERT telomerase reverse transcriptase
E7 = inhibits p21 and RB
epididymitis in childhood cause
- congenital GU abnormality
2. E. Coli, Klebsiella, Pseudomonas
Epididymitis cause sexually active men under 35yo
C. Trachomatis
Neisseria Gonorrhoeae
Epididymitis cause men over 35yo
E. Coli, Pseudomonas
Orchitis is what and most common cause
Testicular infection
- N. Gonorrheae
- Mumps
- Mycobacterium
- Treponema Pallidum
Testicular Torsion SX
- edematous, tender, testicle/scrotum
- effected testicle lies horizontally
- high riding testicle from spermatic cord shortening
Testicular Torsion tests to do on physical exam
- Cremasteric reflex : X elevation of testicle when stroking upper inner thigh
- Prehn sign : Lifting scrotum relieves pain in epididymitis only INCREASES pain in torsion**
Scrotal US of Testicular Torsion
color doppler shows decreased vascular perfusion in testicles
TX of Testicular Torsion and time importance
TIME IS EVERYTHING
1. 4-6hr : 95% viability
2. after 12hr : 20%-60%
3. after 24hr : 0%-20%
= surgery to untwist + bilateral orchidopexy
= manual detorsion while waiting for OR (medially to laterally try to untwist testicle = open-book technique)
most common benign paratesticular tumor
adenomatoid tumor
Testicular Tumors L Germ Cell Tumor is associated with what and prevalence
male 15yo-45yo
Chr12 short arm duplication
Seminoma is what and histology and genes involved
most common GCT
- clear/watery cytoplasm, large nuclei
- KIT, +OCT3/4, +podoplanin, -cytokeratin
Seminoma tumor markers and TX
- syncytiotrophoblasts (high hCG = even higher in choriocarcinoma)
- radiation, chemotherapy
Embryonal carcinoma prevalence and is what
20yo-30yo
more aggressive GCT
Embryonal Carcinoma histology and stains
- large, hyperchromatic nuclei cells, common to have vascular invasion
- +OCT3/4, + Cytokeratin, -KIT, -podoplanin
Embryonal carcinoma TX
aggressive chemo
Yolk Sac tumor is what and also called, prevalence
- endodermal sinus tumor
- testicular tumor f infants up to 3yo
= GOOD prognosis
Yolk Sac Tumor histology and stain
- schiller Duval bodies
2. AFP, a1-antitrypsin, + cytokeratin
Choriocarcinoma is what and stains for it and TX
- very malignant GCT, poor prognosis
- HIGH hCG+
- aggressive chemotherapy
Teratoma is what and histology of it
- many germ layers involved
2. many types of cells and tissues (usually infants and children)
what should be done with solid testicular mass
radial orchiectomy (a biopsy can spill into scrotal skin)
good markers for testicular cancer
hCG, AFP, LDH
2 most common sex cord gonadal stromal tumors
- Leydig cell tumors
2. Sertoli cell tumor
Leydig cell tumor is what and histology
- increase androgens , testicular swelling
2. large granular cells, lipids and lipofusin pigment inside, Reinke crystalloids
TX Leydig Cell tumor
excision
Sertoli cell tumor are what and histology
- benign tumor
2. trabaculae arrangement, cord-like structures and tubules
Sertoli Cell tumor is associated with what and TX
- Carney Complex (PRKAR1A mutation), Peutz-Jeghers syndrome, familial adenomatosis polyposis syndrome
= excision
Primary Testicular Lymphomas are stained how and look like and location
+ CD20, +CD45, -KIT,-PLAP (GCT), -cytokeratin
pink fleshy tan looking involving spermatic cord + bilateral
Primary testicular lymphoma prognosis and types from most frequent down (3)
POOR prognosis can involve CNS frequently
- DLBCL
- Burkitts Lymphoma
- EBV extranodal NK/Tcell lymphoma
Hematocele
blood collection in tunica vaginalis (usually after testicular torsion or trauma)
Chylocele
Lymph accumulation in tunica vaginalis
= in elephantiasis (lymphatic obstruction)
Spermatocele
small cystic accumulation of semen in dilated efferent ducts or rete testis
testicular Varicocele
dilated vein in spermatic cord (usually left side)
can look like a bag of worms
= correct in surgery
prostate has what cells and what helps it grow
- basal cuboidal epithelium
- columnar secretory cells above
(fibromuscular stroma)
= ANDROGENS help it grow
Acute bacterial Prostatitis is what and caused by
E. Coli, enterococci, staph
usually from contaminated urine in urethra or bladder, or at times from blood /Lymph, catheterization
Acute bacterial Prostatitis SX and how to DX and important thing to do
- fever, dysuria, DRE : very tender and boggy prostate
- urine culture and sxs
- DONT BIOPSY it can cause spsis
Chronic bacterial Prostatitis is what and caused by
recurrent UTI, same as acute organisms (ABS have hard time to get into prostate)
Chronic bacterial Prostatitis SX DX
- low back pain, dysuria, perineal / suprapubic pain, can by asymptomatic
- high WBCs in prostatic secretion + bacterial culture
Chronic Abacterial Prostatitis also called and SX
Chronic pelvic pain syndrome
1. same SX as chronic bacterial prostatitis only no recurrent UTIs
Chronic Abacterial Prostatitis DX
high WBCs in prostatic secretion only no bacterial culture found
Granulomatous Prostatitis is what and caused by what
granulomas in prostate tissue
- Fungal : immunocompromised (sx from prostatic ducts rupturing and secretions coming out)
- TB: from lungs or in immunocompromised
what causes BPH
DHT GF increase stromal proliferation and decrease death of cells
ESTROGEN also increases proliferation
BPH effects what part of the prostate
the transitional zone = can compress urethra —-> Slit-like orifice
the most common cancer in men
Adenocarcinoma of prostate
environmental and genetic risk factors for developing prostatic adenocarcinoma
- high charred red meats, animal fats
- = MYC mutation
= DNA MMR gene mutation
= HOXB13 mutation
= DNA repair gene mutation
= DNA methylation
= 1st degree relatives
most common location of prostatic adenocarcinoma
Peripheral Zone esp posterior side where it can be palpated on DRE
stains and cells found in prostatic adenocarcinoma
- perineural invasion
- X basal cells
- a-methylacyl coA racemose UPREGULATED (AMACR)
PSA levels and prostatic adenocarcinoma
regulated by androgen
= can be high in BPH
= only good when pt has cancer and wants to monitor recurrence and progress of treatment
grading of prostatic adenocarcinoma
Gleason System
Grade 1 = neoplastic glands uniform well circumscribed
Grade 5 = infiltrating stroma in cords, sheets, solid nests
Gleason scores that are usually treatable
6 or 7
8 to 10 are usually not
where does prostatic adenocarcinoma invade most likely
- periprostatic tissu, seminal vesicles, base or bladder (can obstruct urethra)
- obturator nodes and para-aortic nodes , bones, axial skeleton
- LUMAR SPINE, proximal femur, pelvis, thoracic spine, ribs
TX prostatic adenocarcinoma
- localized and high risk of spread : surgery or radiation + can add hormonal manipulation (15years life)
- RADICAL PROSTATECTOMY, radiotherapy with external beam radiation or placement or radiactive seeds in prostate (brachytherapy) = good local control
- already spread cancer : androgen deprivation therapy (orchiectomy, or LH-releasing hormone drug)
most common tx for prostatic adenocarcinoma
RADICAL PROSTATECTOMY (surgery removing prostate), radiotherapy with external beam radiation or placement or radioactive seeds in prostate (brachytherapy) = good local control
