Congenital and Cystic Renal Diseases and Renal Tumors Flashcards
What are hypoplstic kidneys?
It is a condition most commonly seen in what demographic?
Kidneys that are smaller than normal
more common in low birth weight infants - higher likelyhood developing renal disease
typically will have no scars
What condition is shown in the following image?
Horshoe Kidney
fusion of lower (90%) or upper (10%) poles
single kidney continuous across midline, anterior to great vessels
increased risk of obstruction & pyelonephritis
What pathology is shown in the provided image?
Autosomal Dominant Polycystic Kidney Disease
How common is Autosomal Dominant Polycystic Kidney Disease?
How do kidneys look at birth?
What mutations causes this condition?
Describe the clinical presentation.
- 1/500 live births
- cysts not present at birth
- Autosomal Dominant- knock out or seriously effect the function of tumor suppressor gene:
- PKD1 on chromosome 16
- polycystin-1
- PKD2 on chromosome 4
- polycystin-2
- milder disease & will present later
- both genes are involved in the cilia/centrosome complex that monitors fluid flow in the kidney
- renal tubular cells have a single cilia that sticks out into the lumen & serves as a mechanoreceptor for changes in fluid flow & shear stress
- anything that inhibits this cilia, can result in polycystic kidney disease
- when the cysts start developing, they will involve a minority of the nephrons (typically in tubules but can develop anywhere)
- often asymptomatic until 4-5th decade - may present with flank pain b/c cysts can rupture
- PKD1 on chromosome 16
- Prognosis:
- 1/2 will require dialysis by 50 - if have PKD2, this will probably occur later
What pathology is shown in the provided image?
Autosomal Dominant Polycystic Kidney Disease (ADPKD), gross appearance
Kidneys will be markedly enlarged - up to 4kg
thin-walled, variably sized cysts on surface
What pathology is shown in the provided images?
Autosoma Dominant Polycystic Kidney Disease (ADPKD), microscopic
- Left Image
- normal tubules lined by cuboidal epithelium;
- cysts stretch that out so that they are lined by flattened epitlelium
- Right Image
- lower right hand of image = normal proteincious fluid in cyst as compared to the cyst on the left which is a much darker red & has hemorrhage inside of it
What are the possible extra-renal manifestations of autosomal dominant polycystic kidney disease?
- Liver cysts
- usually asymptomatic & no associated fibrosis
- Berry aneurysms in Circle of Willis
- can result in subarachnoid hemorrhage that are often rapidly fatal
How would you differentiate:
Autosomal Dominant PKD
Autosomal Recessive PKD
Acquired Cystic Disease
Simple cysts
- Autosomal Dominant PKD
- typically manifests in middle age
- Autosomal Recessive PKD
- typically occurs in childhood or early adulthood
- Acquired Cystic Disease
- kidneys will be much smaller & typically only a few cysts
- Simple cysts
- very common
- typically isolated
- pretty much normal renal parenchyma
- Diagnosis : genetic testing PKD1 & PKD2
How common is Autosomal Recessive Polycystic Kidney Disease?
It is caused by what mutation?
What are the 3 forms?
Prognosis is dependent on what variable?
It can affect what other bodily structures?
- 1/10,000 - 1/40,000
- Mutation: PKHD on chromosome 6
- encodes protein fibrocystin
- part of system that monitors urine flow & shear stress
- loss of fibrocystin also confers loss of polycystin 2
- Only affects pediatric populations
- neonatal form
- juvenile form
- adolescent form
- prognosis varies with age of onset - younger the age, the worse the prognisis
- Pathogenesis
- considered a ciliopathy
- affects liver (adolescents) & lungs (neonates)
What pathology is shown in the provided image?
Autosomal Recessive Polycystic Kidney Disease (ARPKD)- Lethal Neonatal Case
Most cases will develop hypertension before renal disease is apparant
lobulated kidneys- notice there are no cysts visible from the external surface, but when cut open you can see the cysts are long, narrio & radially arranged
Why are neonates with autosomal recessive polycystic kidney disease so severly affected?
they are often born with renal failure or severe renal impairment
& what enables the lungs to develop is amniotic fluid - which comes from fetal urine
this causes the baby to be born with hypoplastic lungs
What pathology is shown in the provided image?
Autosomal Recessive Polycystic Kidney Disease (ARPKD)
Lethal Neonatal Case
- vast majority of the cysts will by cylindrical & parallel to one another “picket fence”
- can arist anywhere in the nephron
- the small sperical structures are residual glomeruli
What pathology is shown in the provided image?
Autosomal recessive polycystic kidney disease - Congenital Hepatic Fibrosis
- seen with older children & teenages with autosomal recessive polycystic kidney disease
- may actually have more hepatic impairment then renal impairment
- the white lines (white arrows) are bridging fibrosis (strands of collagen) throughout the liver
What pathology is shown in the provided image?
Medullary Sponge Kidney
mostly incidental findings - renal function usually normal
normal size, but papillary ducts will be dialted & may be some small cysts present limited to the medullary pyramids (but usually affects all the pyramids in both kidneys - bilateral disease)
cysts will be lined with cuboidal epithelium - no scarring or dysplasia
sometimes scattered calcium phosphate crystals
What pathology is shown in the provided image?
Nephronophthisis
What is Nephronophthisis?
It is associated with what mutation?
What are the forms?
- Presentation
- polyuria & polydypsia (drink a lot)
- defect in the concentrating ability of the kidney
- Na wastine
- tubular acidosis
- scattered cysts & normal sized kidneys
- Rapid progression to end stage renal disease (ESRD) 5-10 yrs
- polyuria & polydypsia (drink a lot)
- Mutation NPHP gene
- lots of genes involved
- Three forms
- Type I: infantile (<4 yrs)
- Type II: jouvenile (13 yrs ave. age)
- Type III: adolescent (19 yrs ave. age)
What pathology is shown in the provided image?
Sample is from the autopsy of an infant patient.
Nephronophthisis
kidney appears edematous & slightly enlarged with promient corticomedullary cysts (variabley sized)
cysts are not alwasy conspicuous in NPHP
What pathology is shown in the provided image?
Sample from the autopsy of a 25 yr old patient.
Adult-onset Medullary Cystic Kidney Disease
cysts at corticomedullar junction & in the medulla
What is Adult-onset Medullary Cystic Kidney Disease?
What are the associated mutations?
- Progression to end stage renal disease in adulthood (20s - 30s)
- Autosomal dominant
- MCKD1 and MCKD2
What pathology is shown in the provided image?
Multicystic Renal Dysplasia
What is Multicystic Renal Dysplasia?
Sporadic disorder & no true dysplasia
very disorganized growth & will typically involve the entire kidney, which will typically be large - will sometimes find normal nephrons
unilateral or bilateral
large cysts & not as numerous as in polycystic kidney disease
dilated tubules, primitive mesenchyme (blue arrow)
can sometimes be mistaken for a teratoma
Identify the types of kidney cysts depicted in the provided images
What pathology is shown in the provided image?
Wilms Tumor - Gross Appearance
What is Wilms Tumor?
Most commonly affected demographic?
- Solitary, well-circumscribed tumor tha tbulges from the surface
- tan/gran cut surface; necrosis & hemorrhage are common
- may or may not be encapsulated
- Young children (2-3 yrs)
- most common GU cancer in children
