A 48 year old builder presents to his GP complaining of an episode of loin pain and frank haematuria. Urinalysis confirms the presence of haematuria and minimal proteinuria. His GP examines him and thinks he can palpate a renal mass. His blood pressure is 155/90.
Blood tests performed show that he has a mildly reduced eGFR. All other routine blood tests are normal. Given the examination findings, the patient undergoes an MRI as shown in this picture.
He visits his GP to discuss the scan results. He reveals on questioning that his father was diagnosed with a ‘kidney condition’ some years before. His father died from a myocardial infarction in his 70s, and had never received dialysis treatment. At the time, the patient was told that he ought to be tested for the renal disease that his father had, but he did not pursue this at the time. He is an only child and is married with two children; a son aged 11 and a five year old daughter.
- What is the most likely diagnosis?
- What can you tell him about prognosis and treatment?
- He asks about the chances of his children having the disease, and whether they ought to be screened. Can you answer his questions?