Pupillary reflexes: compression from berry aneurysms (classically a posterior communicating artery aneurysm) result in dilation of the ipsilateral pupil. Mydriasis typically occurs before ophthalmoplegia in surgical third nerve palsies because the parasympathetic fibres run along the outer surface of the nerve
Fundus examination:
Hypertensive retinopathy
Retinal haemangioblastomas – von Hippel Lindau
Retinal hamartoma – tuberous sclerosis
Mitral valve prolapse and aortic regurgitation due to systemic collagen defect (approximately 20% of patients)
Bilateral ballotable masses which do not move with inspiration
Able to get above the masses
Overlying percussion note is resonant
Usually non-tender
Usually no associated renal bruit
Hepatosplenomegaly: hepatic cysts occur in up to 70% of patients with polycystic kidney disease, and may result in palpable hepatomegaly. Splenic cysts occur in up to 5% of patients
Cysts in liver and pancreas (do not usually cause limitation of function)
Cardiac manifestations
Hypertension ± hypertensive heart disease
Increased frequency of mitral valve prolapse, aortic regurgitation
Gastrointestinal: abdominal wall herniae and colonic diverticulae
Investigations
Full blood count: anaemia / polycythaemia
Renal function
Calcium and phosphate: secondary / tertiary hyperparathyroidism
Urine protein creatinine ratio
Renal ultrasound for cyst number and size
Magnetic resonance angiogram for cerebral aneurysms
Echocardiography if murmurs detected clinically
Management
Patient education on disease course, complications
Control of blood pressure (<130/80)
ACE inhibitors / ARBs are preferred agent
Control of other cardiovascular risk factors
Avoidance of nephrotoxic drugs
Attempt at least 3L of fluid intake per day (suppresses ADH secretion)
Renal replacement therapy
Screening for cerebral aneurysms, especially in patients with positive family or personal history of sub-arachnoid haemorrhage, and prior to major surgery (e.g. renal transplantation).
Screening interval: every 5 years
Screening of first degree-relatives should be done from the age of 20, using renal ultrasound scans
Screening of first degree-relatives for hypertension
Avoid contact sports / situations where risk of abdominal trauma is high
Indications for nephrectomy:
Recurrent infection
Uncontrolled haemorrhage
Suspected malignancy
Symptomatic mass effect
Extension of polycystic kidney into transplant site
Tuberous sclerosis
Autosomal dominant
Two genes: TSC1 on chromosome 9 (harmatin), TSC2 on chromosome 16 (tuberin)
Main renal manifestation is angiomyolipoma (benign); on CT high fat content of angiomyolipomas appear black
Often, angiomyolipomas are multiple and bilateral
Main complication is bleeding
End-stage renal failure may result from:
Multiple angiomyolipomas reducing renal mass
Segmental glomerulosclerosis
Incidence of RCC slightly higher compared to general population
Cardiac: cardiac rhabdomyomas; usually asymptomatic, may cause stenosis
Pulmonary: lymphangiomyomatosis (LAM); cystic lung disease, almost indistinguishable from diffuse interstitial fibrosis. Usually presents with dyspnea or pneumothorax.
Von Hippel Lindau syndrome
Autosomal dominant
VHL gene on chromosome 3
Type 1 and type 2; type 2 associated with phaeochromocytoma
Bilateral, multifocal renal cell carcinoma in approximately 70% of patients
RCC median age of occurrence is 45 years
Nephron-sparing surgery, percutaneous radiofrequency ablation, cryoablation to maintain renal function
Haemangioblastomas: close monitoring, surgery / RT if progressing in size and causing symptoms
Retinal haemangioblastomas: amenable to laser photocoagulation / cryotherapy
Surveillance:
Annual retinal screen
Annual plasma / urinary metanephrines
Annual abdominal ultrasound from the age of 8
Audiology
Biannual MRI with contrast of abdomen, brain and cervical spine
Multiple simple cysts
Bilateral hydronephrosis
Amyloidosis
Summary
Sir, this patient has polycystic kidney disease. I say this because in the abdomen, there is a fullness in the flanks with bilateral ballotable enlarged kidneys. These have a nodular surface, and are non-tender. They measure ____ and ____ in bipolar length; there is no overlying bruit. There is associated hepatomegaly extending ____ cm below the costal margin, which implies co-existent cysts in the liver. There are no stigmata of chronic liver disease, such as jaundice, ascites, spider naevi or gynaecomastia. The spleen is not palpable.
His polycystic kidney disease has been complicated by renal failure. There is evidence of a previous tunneled dialysis catheter in the left / right sub-clavicular region. In addition, there is a functional arteriovenous fistula on the right / left arm, with good overlying thrill and bruit. There are needling marks / overlying dressings to suggest recent needling.
There do not appear to be complications of renal failure such as fluid overload or symptomatic uraemia. The patient is anaemic, with conjunctival pallor.
I would like to complete my examination by examining:
The cardiovascular symptom for signs of mitral valve prolapse / aortic regurgitation
The cranial nerves for signs of intracranial aneurysms
The blood pressure and temperature chart
Fundoscopy for evidence of hypertensive retinopathy
The urine, if possible, for haematuria / proteinuria
A digital rectal examination for the presence of blood, as diverticular disease is a known association
Asking for a family history
Investigations
FBC – anaemia, signs of infection
Renal function, calcium and phosphate – renal bone disease
Chest radiograph: fluid overload
Ultrasound kidneys
MRA if high risk
Genetic testing: for potential donors with no cysts on US
The management of this patient requires a multi-disciplinary approach:
Patient education and screening of family members
Aggressive control of BP and CVRF
Avoidance of nephrotoxic medication
A nephrologist for monitoring of renal function
Magnetic resonance angiography if there is a personal / family history of aneurysm
Antibiotics for urinary tract infections / cyst infections
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