Case history
Case history #1
A 30-year-old woman with a family history (i.e., father, aunt, and grandfather) of polycystic kidney disease (PKD) comes to the renal clinic for evaluation. She denies any history of flank pain, pyelonephritis, or haematuria, but reports having had 2 urinary tract infections (UTIs) over the last year. She is contemplating having a family in the near future. She was recently screened for this disease with an abdominal ultrasound. This showed several small echogenic foci and small cystic changes in the liver. Several bilateral kidney cysts were seen (with the largest measuring 3.2 cm), and an adjacent renal calculus. She denies any history of migraines or headaches. There is no family history of aneurysms or cerebrovascular events. She had an ambulatory blood pressure (BP) monitor study performed prior to her evaluation revealing normal BP. Her examination is completely normal.
Case history #2
A 40-year-old man discovered that he had PKD about 15 years ago when he had renal colic. He was found to have bilateral stones at the time and was treated with lithotripsy. A stone was analysed. He thinks it was a uric acid stone but is not sure. He has had no further renal colic or passage of stones since that time. About 10 years ago, he developed hypertension that has been treated since with adequate control, by his account. He denies having had any UTIs. He had repair of a left inguinal hernia when he was a teenager. Recently, he had a bout of gross painless haematuria lasting 3 days and went to the emergency department for evaluation. A computed tomography (CT) scan was performed, which showed no change in his polycystic kidneys compared with findings on a CT scan 1 year prior. Over the last several years, he has experienced increasing abdominal girth and has developed early satiety and dyspnoea on exertion. He denies any mechanical low back pain.
Other presentations
The most frequent presenting symptoms of autosomal-dominant PKD (ADPKD) are hypertension, flank or abdominal pain, renal colic, palpable abdominal mass, and gross haematuria.[1] However, some patients may initially present with subarachnoid haemorrhage from a ruptured cerebral aneurysm.[6] Early-onset hypertension is often a prominent feature in young adults with ADPKD, with an increased risk of hypertension in those aged <19 years and an average age of onset of hypertension between 30 to 34 years.[7] Hypertension precedes the loss of renal function. For adults with a family history of ADPKD, diagnosis may be made pre-symptomatically by abdominal imaging.[1]
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