case report 1-1

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casereport 1-1
 These studies are from a 20-year-old man with vague back pain.

1.? Describe these images and what is the likely diagnosis.
2.? What is the differential diagnosis
3. The patient reports that his father passed away from a sudden ‘bleed in the brain’.
?What is the most likely diagnosis
4.? Name some associations/complications of this condition
5.? What does the surgical specimen  show

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Answers to Case 1-1



 1Both the CT  and USS images show multiple bilatera
renal cysts. Although no pre contrast CT is available to fully characterise the
cysts, the overall appearances are of numerous bilateral simple (or Bosniak type
1 cysts). One to three simple cysts in this age group would be consistent with
normal age related simple cysts, but the numerous bilateral cysts as seen in this
case, is in keeping with an underlying renal cystic syndrome.
 2In an adult, the most common renal cystic syndromes are autosomal dominant
polycystic kidney disease (ADPKD), von Hippel Lindau (VHL) disease, tuberous
sclerosis (TS).
 3The family history of possible subarachnoid haemorrhage makes ADPKD most
likely, as this is associated with intra-cerebral aneurysms. This condition is associated
with at least two different genetic mutations: ADPKD1 on chromosome
16p in 85–90% of patients, ADPKD2 on chromosome 4q in 5–15%.
 4Associations and complications are listed below:
• Renal: Large kidneys with multiple renal cysts which can become infected or
haemorrhage. Pain and haematuria. Progressive renal failure – 50% develop
end stage renal failure. Calculi and renal cyst calcifi cation
• Other cysts: liver, pancreas, seminal vesicles, testis, ovary
• Cardiovascular: hypertension, thoracic aortic aneurysm
• Neurological: Berry aneurysm causing subarachnoid haemorrhage.
5. Figure 2.9.2 shows bilateral nephrectomy specimens for ADPK prior to transplantation
showing cut and outer surfaces. The kidney parenchyma is replaced
by cysts of varying size with focal haemorrhage. Nephrectomy is performed in
these cases in the event of pain, due to size, bleeding, cystic infection or malignant
transformation

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