Cystic disease and tumours Flashcards
Define autosomal dominant polycystic kidney disease. (2)
Autosomal dominant inherited disorder characterised by the development of multiple renal cysts that gradually expands and replace normal kidney substance.
It is variably associated with extra renal (liver and CV) abnormalities.
What gene is affected in autosomal dominant polycystic kidney disease? (2)
85% are mutations in PKD1 (polycystin-1) on chromosome 16.
15% are mutations in PKD 2 (polycystin-2) on chromosome 4
Describe the pathological process in autosomal dominant polycystic kidney disease. (3)
Proliferative/hyperplasia of the tubular epithelium.
Early on, cysts are connected to tubules from which they arise and fluid content is glomerular filtrate.
Later (cyst diameter >2mm), most detach from patent tubule and fluid is formed from epithelial lining.
Enlargement of cysts causes progressive damage to adjacent functioning nephrons.
What are the clinical features of ADPKD? (3)
Presents after 2nd decade
- Acute loin pain due to cyst haemorrhage or infection or stone formation (uric acid stones more common)
- Haematuria
- Abdominal discomfort caused by renal enlargement
- Hypertension
- Progressive renal impairment. ESRF develops in 50% by 50yrs old.
- Liver cysts (clinically insignificant), rarely cysts in pancreas, spleen, ovary and other organs.
- Subarachnoid haemorrhage (intracranial ‘berry’ aneurysms more common)
- Mitral valve prolapse in 20%
How is ADPKD diagnosed? (2)
Examination: abdominal distention and large kidneys, possible hepatomegaly.
USS (or CT): bilateral enlarged kidneys with;
- at least 2 renal cysts if <30 years old
- at least 2 cysts in each kidney between 30-59 years
- at least 4 cysts in each kidney over 60 years.
What is the management of ADPKD? (3)
BP: slows rate of decline in renal function and minimise risk of sub-arachnoid haemorrhage.
Infections: Prompt treatment with antibiotics
Disease progression: by serum creatinine levels
ESRF: renal replacement therapy.
Siblings/children: offered screening by USS in their 3rd decade.
What is medullary sponge kidney? (1)
Uncommon condition characterised by dilatation of the collecting ducts in the papillae, sometimes with cystic change.
Renal function is usually well preserved.
What is the most common renal tumour in adults? (1)
What cell does this arise from? (1)
Renal cell carcinoma
Proximal tubular epithelium
What is medullary sponge kidney? (2)
Uncommon condition characterised by dilatation of the collecting ducts in the papillae, sometimes with cystic change.
Renal function is usually well preserved.
What is the most common renal tumour in adults? (1)
What cell does this tumour arise from? (1)
Renal cell carcinoma (adenocarcinoma) aka clear cell carcinoma)
Proximal tubular epithelium
Name 3 clinical features of a renal tumour. (3)
Loin pain Haematuria Mass in flank Weight loss Malaise Fever Varicocoele (Left) Polycythaemia (rare presentation caused by excess EPO production) Hypercalcaemia (rare presentation caused by secretion of PTH-like substance)
Why can a renal tumour cause a varicocoele? (1)
Which side will the varicocoele affect? (1)
The left gonadal vein drains directly into the renal vein, if a renal tumour obstructs this then a varicocoele will occur.
As the right gonadal vein drains directly into the IVC then a renal tumour will not cause a varicocoele.
Where does renal carcinoma metastasise to? (3)
Bone, liver, brain and lung.
Tumour invades renal vein and IVC causing haematogenous spread
What imaging techniques can be used in diagnosis of renal tumour? (2)
USS: differentiate benign cyst from complex cysts or solid mass
CT: more sensitive then USS for detection and can show involvement of renal vein or IVC
MRI: best for tumour staging.
What is the treatment for a localised renal tumour? (1)
Radical nephrectomy is preferred.
However, partial nephrectomy may be required when there is bilateral involvement, or when contralateral kidney has poor function.
Name 2 choices for locally advanced or metastatic renal carcinoma. (2)
Interleukin-2 or interferon produce remission in 20% of cases.
What epithelium lines that calyces, renal pelvis, ureters, bladder and urethra? (1)
Transitional epithelium
What is the most common location of transitional cell malignancy? (1)
Bladder cancer
Name 3 predisposing factors for development of bladder cancer. (3)
Cigarette smoking
Exposure to industrial chemicals eg aromatic amines or aniline dyes
Exposure to drugs: eg cyclophosphamide
Chronic inflammation eg schistosomiasis (SCC)
How does bladder cancer usually present? (2)
Painless haematuria
Symptoms of UTI but without bacteriuria.
Pain is due to locally advanced disease or metastatic disease.
Dave is a 42 year old man presenting with painless haematuria.
What is the main diagnosis to rule out? (1)
If over 40 and with haematuria, presume urothelial tumour until proven otherwise.
What is the management of a ureteric or renal pelvic tumour? (1)
Nephroureterectomy
What is the management options for a bladder tumour? (4)
Depends on stage. Local diathermy Cystocopy and endoscopic resection Bladder resection Radiotherapy Intavesical chemotherapy: eg mitomycin Intravesical immunotherpy (BCG) for CIS Systemic chemotherapy Radical cystectomy and formation of ileal conduit.
Describe the staging of bladder cancer. (4)
TNM Ta: confined to mucosa T1: invading lamina propria T2: muscle involved T3: Perivesical fat involved T4: Invasion beyond bladder into adjacent organs or fixed to pelvic wall
You are examining a 65 year old woman named Eglantine and discover a mass in the left loin/flank area.
How can you distinguish a renal mass from a spleen? (2)
Kidney is ballotable, moves vertically down on inspiration and is resonant to percussion due to overlying colon.
Spleen has a notch and moves towards right iliac fossa on inspiration. It is dull to percussion.
What is the commonest renal tumour found in children? (2)
Wilm’s tumour or nephroblastoma.
Contains bizarre variety of tissues derived from mesoderm eg renal tissue, fat, cartilage and bone.
Name 3 causes of prostate enlargement? (3)
Benign prostatic hyperplasia
Prostate carcinoma
Prostatitis
How does a normal prostate feel on examination? (2)
Smooth surface Midline sulcus (may be loss of sulcus in BPH)
Name 3 causes of a raised PSA level. (3)
Increases with age BPH Prostate cancer UTI Perineal trauma (eg MSM) Mechanical manipulation of prostate eg cystoscopy, prostate biopsy or surgery
Name 3 investigations to perform in a male patient complaining of hesitancy, frequency, nocturia, post void dribbling and delay in initiation. (3)
Urine dipstick / MC&S exclude infection
U&Es to check renal function (AKI due to obstruction)
PSA to look for BPH or Carcinoma
Transrectal ultrasound and biopsy for carcinoma
Cystoscopy for stricture
Name 2 drugs that may be used in the medical management of benign prostatic hyperplasia. (2)
Alpha1 blocker: tamsulosin, alfuzosin, prazosin relax prostatic smooth muscle to increase urinary flow.
5-alpha-reductase inhibitors: finasteride block conversion of testosterone to dihydrotestosterone (androgen responsible for prostatic growth)
Name the surgical procedure commonly used to resect a troublesome prostate? (1)
Name 2 complications. (2)
TURP: transurethral resection of the prostate
Early: septic shock, bleeding, transurethral syndrome
Late: haemorrhage, urethral strictures, impotence, recurrent prostatic regrowth, infertility.
Where does prostate cancer arise form? (1)
Adenocarcinoma from peripheral zone of the gland.
How may a cancer of the prostate feel on digital rectal examination? (1)
Hard, craggy, loss of midline sulcus, may be asymmetrical
What treatment options are available for prostate cancer? (2)
Watchful waiting if microscopic
Curative if early:radical prostatectomy
Palliative if spread: TURP for symptom relief, medical or surgical castration (androgens are responsible for growth) (bilateral orchidectomy or LHRH analogues or anti-androgens)
What is medical castration? (2)
LHRH agonists such as goserelin (Zoladex), a trimonthly sc injection or oral anti-androgens such as cyproterone.
Is there a screening programme for prostate cancer? (20
No.Although a common disease, there is a large proportion of patients who are not affected by the tumour in their lifetime (50% of 75 year old have evidence on post mortem but have low symptoms)
Screening holds risk for over-diagnosis and treatment related complications.
Especially as PSA is not very specific and can be affected by many things.
What is the most common cancer of young men? (1)
What cell does it arise form? (1)
What are the two types? (2)
Testicular cancer
usually germ cells (95%); two types are seminomas and teratomas.
What is the usual presenting feature of testicular cancer? (1)
Painless lump in testicle. (10% have pain)
Other presentations include;
Secondary hydrocoele
Cough/dyspnoea from lung mets
Back pain from para-aortic lymph nodes
What tumour markers may be present in a testicular teratoma? (2)
Alpha Feta protein
Beta HcG
Name 2 types of germ cell and 2 types of non-germ cell testicular carcinomas. (4)
germ cell: seminoma and teratoma
non-germ cell: Leydig cell, Sertoli cell and lymphomas.
What is the staging of tesicular tumours? (4)
Stage 1: tumour confined to testis
Stage 2: Involvement of LN below diaphragm
Stage 3: Involvement of LN above diaphragm
Stage 4: Extra-lymphatic spread
Todd has found a lump in his testicle, how will you examine the scrotum? (4)
Which lymph nodes would you like to examine and why? (2)
Can i get above it? (above testis, not above hernia)
Is the lump in the testis or separate?
Does it transilluminate?
Is the testes tender?
Abdominal (para aortic), supraclavicular, chest.
Testes drain towards aorta, not into groin.
Name the layers of the scrotum. (6)
Skin Dartos fascia External spermatic fascia Cremasteric fascia Internal spermatic fascia Tunica vaginalis Tunica albuginea
What is a hydrocoele? (1)
Fluid around the testes betwenen the tunica vaginalis and the tunica albuginea.
What is the cause of an infantile primary hydrocoele? (1)
Patent processus vaginalis (same as for infantile hernia)
Name 2 causes of a secondary hydrocoele. (2)
Trauma, infection, malignancy
the processus vaginalis produces excessive fluid for unknown reasons
What is epididymo-orchitis?(1)
Inflammation of the testis and epididymis due to infection.
Mumps in young
Chlamydia or gonorrhoea in sexually active
E coli in elderly
What findings on history ans exam would you expect in a aptient with epididymo-orchitis? (4)
History: acute onset of severe pain. May feel unwell with fever, urethral discharge and symptoms of UTI.
Examination: tender, warm, erythematous.
Markedly swollen epididymis separate from testicle.
Elevation of scrotum may relieve pain.
How can epididymo-orchitis be differentiated form testicular torsion? (1)
On examination, elevation of the scrotum may relieve pain in epididymo-orchitis but not of testicular torsion.
Also no symptoms suggestive of UTI in torsion that may be present in epididymo-orchitis.
Why is testicular torsion a medical emergency? (1)
What age groups are usually affected? (1)
Infarction can occur within hours of torsion.
Any age can be affected by peak incidence is between ages of 12 and 27 years old.
What causes the pain of testicular torsion? (1)
Sudden onset severe testicular pain caused by ischaemia due to twisting of the testes within tunica vaginalis, compromising blood supply.
What is the management of a suspected testicular torsion? (2)
Due to the nature of the condition (emergency), if in doubt, surgical exploration is indicated.
If infarction has occurred orchidectomy may be required.
If not infarcted, the torsion is relieved and both testicles are fixed by suture to the scrotal wall.
What is a varicocoele? (1)
Abnormal dilatation of the testicular veins.
Occur most often on the left side.
Name 1 complication of a varicocoele. (1)
Infertility possibly due to chronically raised temperature of the testicles.
What is a phimosis/paraphimosis? (2)
Phimosis: Unable to retract foreskin due to narrowing of the opening of the foreskin. Sometimes can be the result of recurrent balanitis.
Paraphimosis: swelling of the glans as a result of a tight foreskin being retracted and not replaced. eg after catheterisation. Tight foreskin blocks venous return and the glans becomes oedematous.
What is the time frame for dealing with undescended testes in children? (2)
Examined at birth to check.
80% can be palpated in inguinal canal; if so orchidopexy is performed and the testis is fixed in the scrotum by 18 months old.
Spontaneous descent is rare after 1 year, and after 2 years the testes is likely to be damaged and incapable of spermatogenesis.
if not in canal, do MRI or laparoscopy to locate (as considered to be intraabdominal. If undecended testes presents after puberty, locate and orchidectomy required.
