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Polycystic kidney disease (PCKD) (Complications (Liver Liver cysts …
Polycystic kidney
disease (PCKD)
Definition
Genetic kidney disorder
with multiple cyst formation
on the kidneys and liver
Epidemiology
Commonest genetic cause of kidney disease
1:1000
AD>AR
Pathophysiology
Defect
AD or AR mutations
Mutation in PKD1 commonest, or PKD2
Mechanism
Renal enlargement with cysts
Liver also affected, may affect heart and brain
Clinical
presentation
Abdominal mass
Haematuria
Abdominal pain
Diagnosis
Examination
Abdo exam
Palpable kidneys
Investigations
Bloods
FBC, CRP, U+E, LFTs, clotting
Genetic screen (PCKD)
Imaging
USS KUB: cysts on one/both kidneys
CT/MRI angio head: if risk aneurysms
Bedside
Obs
Height/weight
History
DH
Meds, allergies
FH
PCKD, liver disease, SAH
PMH
Growth and development
Known medical conditions
SH
Livign arrangements, occupation/school,
smoking, alcohol
PC/HPC
Abdominal pain, abdominal mass,
haematuria
Management
Conservative
Information, advice, support
Genetic counselling
Lifestyle (diet, exercise, min alcohol)
Complications
Liver
Liver cysts
Liver failure
Neurological
Intracranial aneurysms
SAH
Kidney
Progressive renal failure
Cyst infection
Renal caliculi
Cardiovascular
MV prolapse
Gastrointestinal
Diverticulosis
Prognosis
PKD1 more aggressive, ESRF by 50;
PKD2 slower course, ESRF by 70
Screening
Difficult as many mutations
Usually done by USS rather
than genetic testing in early 20s if FH
If FH PCKD and SAH, MRI angio also