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Polycystic Kidney Disease (Signs (Extra-Renal (Mitral valve prolapse,…
Polycystic Kidney Disease
Definition
Autosomal dominant disease of the kidney
Can lead to CKD
Epidemiology
Affects 7 million people worldwide
85% have mutations in PKD1 (chromosome 16)
Prevalence: 1:1000
Mainly autosomal dominant, can be recessive
Signs
Renal caliculi
Hypertension
Cyst infection
Progressive renal failure
Abdominal pain with haematuria (haemorrhage into a cyst)
Extra-Renal
Mitral valve prolapse
Ovarian cysts
Intra-cranial aneurysm (due to the mutation of the gene) which leads to subarachnoid haemorrhage
Diverticular disease
Liver cysts
Renal enlargement with cysts
Investigations
Genetic testing
CT for renal colic
MRI for intercranial aneurysms
Ultrasound
Treatment
Hypertension should be treated. Target <130/80 mmHg - use ACE inhibitors
Treat infection
Increase water intake to 3-4L a day if eGFR >30
Transplant
Genetic counselling
Autosomal Recessive Disease
Signs: renal cysts, congenital hepatic fibrosis, portal hypertension
No specific therapy
Chromosome 6
Prevalence: 1:40,000