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