g Flashcards
alport syndrome what inheritance
x-linked dominant
what is alport syndrome
It is due to a defect in the gene which codes for type IV collagen resulting in an abnormal glomerular-basement membrane (GBM). The disease is more severe in males with females rarely developing renal failure.
A favourite question is an Alport’s patient with a failing renal transplant. This may be caused by the presence of anti-GBM antibodies leading to what
goodpastures syndrome
Alport’s syndrome usually presents in childhood. The following features may be seen:
microscopic haematuria
progressive renal failure
bilateral sensorineural deafness
lenticonus: protrusion of the lens surface into the anterior chamber
retinitis pigmentosa
renal biopsy: splitting of lamina densa seen on electron microscopy
how to diagnose alports
Diagnosis
molecular genetic testing
renal biopsy
electron microscopy: characteristic finding is of the longitudinal splitting of the lamina densa of the glomerular basement membrane, resulting in a ‘basket-weave’ appearance
localised advanced prostate cancer options for treatment
hormone therapy
radial prostatectomy - erectile dysfunction is common though
radiotherapy - external bea, and brachytherapy. patients are at increased risk of bladder, colon, and reactal cancer following radiotherapy for prostate cancer
Anti-androgen therapy
synthetic GnRH agonist or antagonists
GnRH agonists: e.g. Goserelin (Zoladex)
initially therapy is often covered with an anti-androgen to prevent a rise in testosterone
bicalutamide
non-steroidal anti-androgen
blocks the androgen receptor
cyproterone acetate
steroidal anti-androgen
prevents DHT binding from intracytoplasmic protein complexes
used less commonly since introduction of non-steroidal anti-androgens
abiraterone
androgen synthesis inhibitor
option for the treatment of hormone-relapsed metastatic prostate cancer in patients who have no or mild symptoms after androgen deprivation therapy has failed, and before chemotherapy is indicated
bilateral orchidectomy
used to rapidly reduce testosterone levels
chemo with docetaxel
In patients complaining of abdominal discomfort and nausea, with frequent episodes of kidney stones and urinary tract infections, what anatomical abnormality may be found on imaging?
fused kidneys crossing anterior to the aorta
The abdominal pain and nausea with frequent kidney stones and urinary tract infection give rise to the suspicion of a horseshoe kidney. Anatomically, this is seen as two kidneys fused in the midline passing anterior to the aorta.This is a congenital disorder that is more common in males, and the frequency of urinary tract infections is greater in this condition as compared to unaffected individuals. There is currently no treatment available for the condition and current management involves symptomatic treatment.
Alcohol binge-drinking is known to suppress
ADH
leading to polyuria
common causes of polyuria
diuretics and caffeine and alcohol
DM
lithium
heart failure
at which of the following sites would the testicle be located if there were an ectopic testis
superficial inguinal pouch
cryptorchidism
MRI needed places in scortum if not already after 1 year of age
seminomas increased in undescended testis
what can raises PSA levels
BPH portraits or UTI ejaculation vigorous exercise UR instrumentation of urianry tract
what cancer have normal AFP and HCG
seminomas
kidney autoregultes blood supply between what
80-180 so will be little change
most ant to post in hilum
renal vein , artery then uretre
