Genitourinary: Part 4 Flashcards
Is ARPKD more common than ADPKD
It is RARER
What causes ARPKD
PKHD1 mutation on q arm of chromosome 6
Clinical presentation of ARPKD
- Presents in infancy
- Alongside congenital hepatic fibrosis
- Enlarged polycystic kidneys
- 30% develop kidney failure
Differential diagnosis of ARPKD
- ADPKD
- Multicystic dysplasia
- Hydronephrosis
- Renal vein thrombosis
Diagnosis of ARPKD
- ULTRASOUND
- CT and MRI
- Genetic testing
How is ARPKD treated
- Genetic counselling
- Laparoscopic removal of cysts to help with pain relief
- RAMIPRIL
- Treat stones an give analgesia
- Renal replacement therapy for ESRF
How do we diagnose non-malignant scrotal disease
If we can prove testicular lump is NOT cancer:
- Can you get above it
- Can you separate it from the testis
- Cystic or solid
What is the scrotal disease if you cannot get above the lump
- Inguinoscrotal hernia or proximally extending hydrocele
What is the scrotal disease if separate and cystic
Epididymal cyst
What is the scrotal disease if separate and solid
Epididymitis or varicocele
What is the scrotal disease if testicular and cystic
Hydrocele
What is the scortal disease if testicular and solid
Tumour
Haematocele
Characteristics of an epididymal cyst
- Smooth
- Extratesticular
- Spherical cyst in head of epididymis
- Contains clear and milky fluid
Clinical presentation of epididymal cyst
- Many an bilateral
- Small cysts = asymptomatic
- Well defined and transluminate since fluid-filled
- Testis is palpable quite separately from cyst (unlike hydrocele where testes is palpable within fluid filled swelling)
Differential diagnosis of epididymal cyst
- Spermatocele
- Hydrocele - collections of fluid surrounding entire testicles
- Varicocele - dilated veins that increases with abdo pressure
What is spermatocele
- Fluid-filled sperm filled cyst in epididymis
2. No way to differentiate between cyst of epididymis and spermatocele
How can we differentiate spermatocele from epididymal cyst
Sperms are present in milky fluid aspiration
How is epididymal cyst diagnosed
ULTRASOUND
How is epididymal cyst treated
- Not needed
2. Surgical excision if painful
What is hydrocele
- Abnormal collection of fluid within the tunica vaginalis
Where are primary hydroceles found
Younger men
What is primary hydrocele associated with
Patent processus vaginalis which resolves during 1st year of life
In what individuals are secondary hydroceles found
- Older boys and men
What diseases cause secondary hydrocele
- Testis tumour
- Trauma
- Infection
- TB
- Testicular torsion
- Generalised oedema
Pathophysiology of simple hydrocele
Overproduction of fluid in tunica vaginalis
Pathophysiology of communicating hydrocele
Processus vaginalis fails to close , allowing peritoneal fluid to communicate freely with scrotal portion
Clinical presentation of hydrocele
- Scrotal enlargement with non-tender,smooth and cystic swelling
- No pain unless infection present
3, Testis palpable but not in large hydrocele - Lies anterior to and below testis and will transluminate
Differential diagnosis of hydrocele
Tetsicular torsion and strangulated hernias
Diagnosis of hydrocele
Ultrasound
Serum alpha-fetoprotein and human chorionic gonadopreotein excludes malignant teratomas or germ cell tumours
Treatment of hydrocele
Resolves on its own by 2 years of age
2. Therapeutic aspiration or surgical removal
What is a varicocele
- Abnormal dilatation of testicular veins in the pampiniform venomous plexus = venous reflux
What side of the testis is usually effected more commonly in varicoceles
Left
In what individuals are varicoceles common in
Boys over 10 (after puberty)
Associated with sub-fertility
Where is a varicocele palpated
Left tetsicular vein enters renal vein
Pathophysiology of a varicocele (what causes it)
Increased reflux from compression of renal vein
Lack of effective valves between testicular and renal veins
Clinical presentation of varicocele
- Distended scrotal blood vessels that feel like a bag of worms
- Patients have dull ache or scrotal heaviness
- Scrotum hangs lower on the side of varicocele
Differential diagnosis of varicocele
- Secondary to other pathological processes blocking testicular vein (kidney tumours or retroperitoneal tumours
Diagnosis of a varicocele
- Venography
2. Colour doppler ultrasound
Treatment of a varicocele
Surgery if there is pain, infertility or testicular atrophy
Define testicular torsion
Torsion of spermatic cord leads to occlusion of tetsicular blood vessels - ischaemia and infarct)