Week 3 Flashcards
(173 cards)
What is agenesis?
Absence of one or more kidneys.
Hypoplasia of the kidneys
Small kidneys but normal function
What is a horseshoe kidney?
Kidneys joined at either pole. Usually inferior.
What is a duplex system?
Two kidneys on one side.
Describe polycystic kidney disease (infantile type)
Inherited defect leading to bilateral enlargement of the kidneys with cysts in the renal cortex and medulla.
How is infantile polycystic kidney disease inherited?
Autosomal recessive (ARPKD)
How does infantile polycystic disease present?
Infants with worsening renal failure and hypertension.
Bilateral renal enlargement with elongated cysts
Dilation of medullary collecting ducts
New borns may present with Potter sequence.
What is potter sequence?
Refers to the typical appearance and associated pulmonary hypoplasia associated with oligohydramnios (lack of amniotic fluid). Due to the newborn missing one or both of its kidneys.
What is infantile polycystic kidney disease associated with?
congenital hepatic fibrosis (leads to portal hypertension) and hepatic cysts.
How would you investigate polycystic kidney disease?
Ultrasound
CT or MRI
Why do people get adult polycystic disease (genetic)?
Due to a mutation on chromosome 16 in APKD1 (90% of cases)
Or on chromosome 4 in APKD2 (better prognosis)
What are the 4 B’s for adult polycystic kidney disease?
B- big- abdominal mass is how it can present
B- berry aneurysm- in the circle of willis
B- bilateral
B-bleeding- presents with haematuria (occurs due to cysts bursting)
What other symptoms may someone with adult polycystic kidney disease present with?
Abdominal pain Cyst infection Renal calculi Hypertension Progressive renal failure Reduced urine concentrating ability resulting in enuresis (involuntary urination)
Why is genetic counselling important in adults with polycystic kidney disease?
Offspring of affected people are at a 50% higher risk of having the disease
Name the 5 benign renal tumours
Fibroma Adenoma Angiomyolipoma Juxtaglomerular cortical tumour Oncocytoma
Describe a fibroma of the kidney
Most common tumour in the kidney- found with no clinical signs
Medullary in origin
White nodules
Describe an adenoma of the kidney
Yellowish nodules <2cm
Cortical in origin
Describe an angiomyolipoma of the kidney
Mixture of fat, muscle and blood vessels. Can be multiple or bilateral. Associated with tuberous sclerosis
Can cause haemorrhage.
Describe a juxtaglomerular cortical tumour?
Produce renin and can cause secondary hypertension.
Describe an oncocytoma tumour of the kidney?
3-7% of renal masses.
Stellate/central scar on CT- no definitive diagnosis until nephrectomy.
Name the malignant tumours you can get in the kidney
Nephroblastoma Renal cell carcinoma Transitional cell carcinoma Adenocarcinoma Squamous cell carcinoma Embryonal rhabdomyosarcoma
What is the other name for a nephroblastoma?
Wilms tumour.
Where do nephroblastomas arise from?
Residual primitive renal tissue (blastema- immature kidney mesenchyme)
Who are nephroblastomas common in?
Most common malignant renal tumour in children - average age is less than 3.