Week 3 - D - Pathology 2 - PKD, Kidney&Bladder carcinoma

Question 1

What is the absence of one of the kidneys known as?

Answer 1

Kidney agenesis

Question 2

What level is the right and left kidneys located between?

Answer 2

Right kidney - vertebra L1-L3

Left kidney - vertebra T12-L2

Question 3

Why does the right kidney sit lower than the left?

Answer 3

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

Question 4

fusion at either pole of the kidney, Kidneys usually lie lower ie beneath inferior mesenteric artery WHat is this?
What is a duplex system?

Answer 4

This is a horseshoe kidney

A duplex system means there are two ureters coming from the same kidney and inserting into the bladder

Question 5

What is the most common polycsytic disease in people?

Answer 5

Autosomal dominant polycystic kidney disease (ADPKD)

Question 6

What is the most common polycystic disease typically diagnosed in children and infants ?

Answer 6

This autosomal recessive polycystic kidney disease (ARPKD)

Question 7

ARPKD - how does it present?

Answer 7

Present at birth, first year.

Bilateral flanks masses.

Dilated distal tubes, collecting ducts, enlarged kidneys at birth.

Question 8

What can ARPKD lead to?

Answer 8

This can lead to kidney failure in children which can result in death

Question 9

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

Answer 9

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

Question 10

How are the kidneys involved in olioghydramnios that can lead to Potter’s syndrome?

Answer 10

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

Question 11

Adult Polycystic Disease is of autoosmal inheritance What genes/chromosomes are there mutations?

Answer 11

Chromosome 16 in 90% (ADPKD 1), others
Chromosome 4 (ADPKD 2).

Question 12

How does adult polycystic disease usually present?

Answer 12

Usually presents in adult life with bilateral abdominal mass, haematuria and chronic renal failure

Question 13

What are the 4Bs of adult polycystic renal disease?

Answer 13

Big - abdominal mass

Bilateral

Bleeding - haematuria

Berry Aneurysms in the Circle of Willis

Question 14

What can the Berry Aneurysms lead to?

Answer 14

Berry aneursyms are small weak vessels that cause aneusyms to form and can lead to rupture causing subarachnoid haemorrhage

Question 15

Due to the chronic renal failure seen in ADPKD, how can this lead to left ventricular hypertrophy?

Answer 15

This causes secondary hypertension which will lead to left ventricular hypertrophy when trying to pump blood around the body

Question 16

What will ultrasound of the kidneys show? Can the cysts spread? (do they have a functional effect)

Answer 16

Ultrasound shows the large cystic kidneys

In 1/3 – cysts in liver, pancreas, lung.

No functional effect.

Question 17

Which chromosome’s can cause ADPKD? (which is most common) What are the symptoms/signs?

Answer 17

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

Question 18

What is the best treatment option for patients with ADPKD?

Answer 18

ACE inhibitors

Question 19

There are other causes of benign renal tumours What is a renal fibroma?

Answer 19

Tumour of medullary origin that is white nodules

Question 20

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?

Answer 20

This is known as an Angiomyolipoma

Question 21

What genetic condition are angiomyolipomas associated with?

Answer 21

Associated with tuberous sclerosis

Question 22

Where are the mutations in tuberous sclerosis? What are the presenting symptoms of tuberous sclerosis?

Answer 22

TSC1 mutation on chromosome 9 and TSC2 mutation on chromosome 16

Ash leaf macule

Infantile seizures

Periungual fibroma

Longitudinal ridging

Know also Angiomyolipoma

Question 23

What is the renin producing tumour in the kidneys that can lead to secondary hypertension?

Answer 23

Juxtaglomerular cell tumour (JGCT)

Question 24

commonest intra-abdominal tumour in children. Abdominal mass. Arises from residual primitive renal tissue. What is this?

Answer 24

This is a nephroblastoma - aka Wilm’s tumour

Question 25

How can a nephroblastoma present in children?

Answer 25

Can present with abdominal mass and pain, vomiting

Question 26

What is the most common type of cancer of the collecting system in urinary tract? (from renal pelvis to proximal urethra)

Answer 26

This is a transitional cell carcinoma

Question 27

What is the common type of renal tumour in adults? It is known as clear cell carcinoma due to its histological appearance

Answer 27

This is renal cell carcinoma Known as clear cell as the cells are clear on hisstology

Question 28

How does renal cell carcinoma present?

Answer 28

Presents with abdominal mass, haematuria, flank pain, general features of malignant disease.

Question 29

What are 2 paraneoplastic features of renal cell carcinoma?

Answer 29

Increased erythropoetin (EPO) production - causing polycythaemia PTH production causing hypercalcaemia (also associated with renin and ACTH production)

Question 30

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?

Answer 30

Can be assoicated with von Hippel-Lindau syndrome

Question 31

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?

Answer 31

Kidney cancers due to RCC is around 90% Bladder cancers due to TCC is around 90%

Question 32

if there is painless haematuria, what do you think this probably is?

Answer 32

Bladder cancer

Question 33

What is transitional cell carcinoma risk factors?

Answer 33

Linked with smoking, and working with dyes and rubber

Question 34

What is the first line treatment of small vessel vasculitis and which drug used here can also predispose to transitional cell carcinoma?

Answer 34

IV steroids + cyclophosphamide TCC risk factors \* Linked with smoking \* Working with dyes \* Working with rubber \* Cyclophosphamide

Question 35

Where do the majority of TCC occur? It is found at the base of the bladder

Answer 35

Trigone

Question 36

What is squamous cell carcinomas of the urinary tract linked to?

Answer 36

Linked to the parasitic infection via Schistosomiasis found in egypt and other african countries Can see the schistosomiasis eggs here Also linked to smoking

Question 37

Commonest malignant bladder tumour in children?

Answer 37

Embryonal Rhabdomyosarcoma