Week 3 - D - Pathology 2 - PKD, Kidney&Bladder carcinoma Flashcards
What is the absence of one of the kidneys known as?
Kidney agenesis
What level is the right and left kidneys located between?
Right kidney - vertebra L1-L3
Left kidney - vertebra T12-L2
Why does the right kidney sit lower than the left?
Due to the presence of the liver the right kidney sits lower
The spleen is small and does not take up as much space as the liver
fusion at either pole of the kidney, Kidneys usually lie lower ie beneath inferior mesenteric artery WHat is this?
What is a duplex system?
This is a horseshoe kidney
A duplex system means there are two ureters coming from the same kidney and inserting into the bladder
What is the most common polycsytic disease in people?
Autosomal dominant polycystic kidney disease (ADPKD)
What is the most common polycystic disease typically diagnosed in children and infants ?
This autosomal recessive polycystic kidney disease (ARPKD)
ARPKD - how does it present?
Present at birth, first year.
Bilateral flanks masses.
Dilated distal tubes, collecting ducts, enlarged kidneys at birth.
What can ARPKD lead to?
This can lead to kidney failure in children which can result in death
What can result from the poor kidney function in autosomal recessive polycystic kidney disease? It gives rise to a child with poor lung function and deformity of the face and ears
This can lead to oligohydroaminos as kidney function does not work and this causes a syndrome cause Potter’s syndrome
Potter’s syndrome classically occurs due to bilateral renal agenesis but can be seen in ARPKD
How are the kidneys involved in olioghydramnios that can lead to Potter’s syndrome?
Fetal urine production begins in early gestation and comprises the majority of the amniotic fluid in the second and third trimesters of pregnancy - therefore need working kidneys
Oligohydramnios occurs if the volume of amniotic fluid is less than normal for the corresponding period of gestation.
The fetal urine is critical to the proper development of the lungs
Adult Polycystic Disease is of autoosmal inheritance What genes/chromosomes are there mutations?
Chromosome 16 in 90% (ADPKD 1), others
Chromosome 4 (ADPKD 2).
How does adult polycystic disease usually present?
Usually presents in adult life with bilateral abdominal mass, haematuria and chronic renal failure
What are the 4Bs of adult polycystic renal disease?
Big - abdominal mass
Bilateral
Bleeding - haematuria
Berry Aneurysms in the Circle of Willis
What can the Berry Aneurysms lead to?
Berry aneursyms are small weak vessels that cause aneusyms to form and can lead to rupture causing subarachnoid haemorrhage
Due to the chronic renal failure seen in ADPKD, how can this lead to left ventricular hypertrophy?
This causes secondary hypertension which will lead to left ventricular hypertrophy when trying to pump blood around the body
What will ultrasound of the kidneys show? Can the cysts spread? (do they have a functional effect)
Ultrasound shows the large cystic kidneys
In 1/3 – cysts in liver, pancreas, lung.
No functional effect.
Which chromosome’s can cause ADPKD? (which is most common) What are the symptoms/signs?
ADPKD1 on chromosme 16 accounts for 90%
ADPKD2 on chromosme 4 is the other 10%
Bilateral abdominal swelling and Berry aneusyms
Secondary hypertension due to chronic renal failure
Cystic kidneys on US
Haematuria
Abdminal pain
What is the best treatment option for patients with ADPKD?
ACE inhibitors
There are other causes of benign renal tumours What is a renal fibroma?
Tumour of medullary origin that is white nodules
Adenoma – yellowish nodules usually less than 2cm in size and are cortical in the kidney
What is the tumour of fat, muscle and blood vessels known as?
This is known as an Angiomyolipoma
What genetic condition are angiomyolipomas associated with?
Associated with tuberous sclerosis
Where are the mutations in tuberous sclerosis? What are the presenting symptoms of tuberous sclerosis?
TSC1 mutation on chromosome 9 and TSC2 mutation on chromosome 16
Ash leaf macule
Infantile seizures
Periungual fibroma
Longitudinal ridging
Know also Angiomyolipoma
What is the renin producing tumour in the kidneys that can lead to secondary hypertension?
Juxtaglomerular cell tumour (JGCT)
commonest intra-abdominal tumour in children. Abdominal mass. Arises from residual primitive renal tissue. What is this?
This is a nephroblastoma - aka Wilm’s tumour
How can a nephroblastoma present in children?
Can present with abdominal mass and pain, vomiting
What is the most common type of cancer of the collecting system in urinary tract? (from renal pelvis to proximal urethra)
This is a transitional cell carcinoma
What is the common type of renal tumour in adults? It is known as clear cell carcinoma due to its histological appearance
This is renal cell carcinoma
Known as clear cell as the cells are clear on hisstology
How does renal cell carcinoma present?
Presents with abdominal mass, haematuria, flank pain, general features of malignant disease.
What are 2 paraneoplastic features of renal cell carcinoma?
Increased erythropoetin (EPO) production - causing polycythaemia
PTH production causing hypercalcaemia (also associated with renin and ACTH production)
Yellow colour, with solid, cystic, necrotic and haemorrhagic areas is how the kidney looks when taken out in renal cell carcinoma What can he renal cell carcinoma extend into? what condition is it associated with?
Can be assoicated with von Hippel-Lindau syndrome
Transitional epithelium - from pelvicalyceal system to urethra. What percentage of kidney cancers do renal cell carcinoma account for? What percentage of bladder cancers do transitional cell carcinoma account for?
Kidney cancers due to RCC is around 90%
Bladder cancers due to TCC is around 90%
if there is painless haematuria, what do you think this probably is?
Bladder cancer
What is transitional cell carcinoma risk factors?
Linked with smoking, and working with dyes and rubber
What is the first line treatment of small vessel vasculitis and which drug used here can also predispose to transitional cell carcinoma?
IV steroids + cyclophosphamide
TCC risk factors
* Linked with smoking * Working with dyes * Working with rubber * Cyclophosphamide
Where do the majority of TCC occur? It is found at the base of the bladder
Trigone
What is squamous cell carcinomas of the urinary tract linked to?
Linked to the parasitic infection via Schistosomiasis found in egypt and other african countries
Can see the schistosomiasis eggs here
Also linked to smoking
Commonest malignant bladder tumour in children?
Embryonal Rhabdomyosarcoma
