Pathology Flashcards
Explain each of the following terms:
Agenesis
Hypoplasia
Horseshoe Kidney
Agenesis - absence of one or both kidneys
Hypoplasia - small kidneys, normal development
Horseshoe kidney - fusion at either (usually inferior) pole.
What is the appearance of a child who has bilateral renal agenesis and why?
Looks squashed - most of the amniotic fluid is formed from foetal urine.
Agenesis of one kidney can live a normal life - true/false
True - kidneys have a massive reserve so one kidney is sufficient.
In hypoplasia there may be normal or diminished function - true/false
True
What clinical consequence(s) may occur from a horseshoe kidney?
Very few
May cause obstruction of urinary tract if very large bridge - usually an incidental finding.
What is the most common cystic kidney disease?
Simple cyst
What cell type is a simple kidney cyst lined by?
Squamous epithelium
Simple cysts rarely compromise renal function - true/false
True
Simple cysts are usually incidental/symptomatic findings and can be a consequence of ______
Incidental finding
Consequence of long term haemodialysis.
There are two types of polycystic disease - what are they?
Infantile type PKD & Adult type PKD.
Infantile type PKD is fairly common - true/false
Fairly rare
In the perinatal group, polycystic kidney disease is terminal - true/false. if true, why? if false, why not?
True
Neonates are not suitable for transplanting and not suitable for long term haemodialysis.
Infantile PKD follows which inheritance pattern?
Autosomal recessive
What is seen in infantile type PKD?
Uniform, bilateral renal enlargement
Elongated cysts
Dilation of the medullary collecting ducts
What other disease is infantile type PKD associated with?
Congenital hepatic fibrosis.
Adult PKD is the more common that infantile type PKD - true/false
False - this is the least common form of congenital cystic disease
what chromosomes/genes are affected in adult type PKD?
Chromosome 16 - ADPKD1 (90% of cases)
Chromosome 4 - ADPKD2 (10%)
Why is genetic counselling important?
it presents later so it is important if they wish to have a family.
How does adult PKD usually present?
mid-life
Abdominal mass, haematuria, hypertension and CRF
What percentage of patients on haemodialysis and on the transplant registries have adult PKD?
8%
On examination what will you find in adult PKD?
Grossly enlarged kidney
Multiple cysts, vary in size
distortion of renal shape.
What weight is a normal kidney? How does this compare to PKD?
100g normal
Can be up to and above 1 kg in PKD.
Cysts may spread to _____ & ______ in PKD
Liver and lungs
In PKD, liver and lung cysts have no functional effect; true/false
True