CYSTIC DISEASE OF THE KIDNEY Flashcards
What is cystic renal dysplasia?
Inherited cystic disease characterised by an area of undifferentiated mesenchyme or cartilage within the parenchyma. Can be bilateral or unilateral.
What is the main complication of cystic renal dysplasia?
Obstructive abnormalities in the ureter and lower urinary tract.
When do people with cystic renal dysplasia typically present?
In childhood
What is the treatment for cystic renal dysplasia?
Surgical excision
What is the type of inheritance of adult polycystic kidney disease?
Autosomal dominant
What is the most common inherited nephropathy?
Adult polycystic kidney disease
What is the gene most commonly affected in adult polycystic kidney disease and what chromosome is it found on?
PKD 1 on chromosome 16
Where do the cysts in adult polycystic kidney disease develop from?
Dilated tubules and Bowman’s capsules
When do people with adult polycystic kidney disease typically present?
30-40s
What are the clinical features associated with adult polycystic kidney disease?
Hypertension
Acute loin pain
Haematuria
Bilateral large palpable kidneys
What are the complications associated with adult polycystic kidney disease?
End-stage renal failure
Hypertension and associated complications
When do people with adult polycystic kidney disease typically develop end stage renal failure?
Fifth or sixth decade
How is adult polycystic kidney disease diagnosed?
Ultrasound or CT
Genetic testing
Other than the kidney, what other organs are often affected by the same mutation that causes adult polycystic kidney disease?
Liver in 30-40% of cases Lungs Pancreas Ovaries Spleen
What do most people with adult polycystic kidney disease die of?
Cardiovascular events associated with hypertension
How are people with adult polycystic kidney disease managed?
Hypertension control
Dialysis
Renal transplant
What is the type of inheritance in child polycystic kidney disease?
Autosomal recessive
What is the prognosis of someone born with polycystic kidney disease?
Poor - usually a few weeks, unless renal replacement therapy is given.
Some children can survive for several years with independent renal function.
What is the type of inheritance of nephronophthisis?
Autosomal recessive
At what age do people with nephronophthisis typically present?
By the age of 25
What is nephronophthisis?
Cystic disease of the renal medulla
What are the clinical features of nephronophthisis?
Polydipsia
Polyuria
Growth retardation
Renal failure
What does a renal biopsy of someone with nephronophthisis show?
Chronic tubulointerstitial nephritis
What is the treatment of nephronophthisis?
Dialysis and renal transplantation
What is medullary sponge kidney?
A cystic disease of the renal medulla which results from dilated collecting ducts in the medulla.
How do people with medullary sponge kidney present?
Symptoms of UTI
Stone formation
Haematuria.
How is medullary sponge kidney diagnosed?
Intravenous urography
What is the prognosis and treatment of medullary sponge kidney?
Good prognosis
Partial nephrectomy may be required
What is the only known form of acquired cystic disease of the kidney?
Dialysis related cystic disease
