Polycystic kidney disease (PKD)
Autosomal Dominant PKD (ADPKD) Autosomal Recessive PKD
Most commonly inherited cause of kidney (ARPKD)
disease Defect in PKHD1 Chromosome
Affecting 1 in 1000 Caucasians
PKD1 + PKD2 code for polycystin- 1 & 2
6 encodes fibrocystin
respectively (important for normal renal
PKD1 (85%) Chromosome 16 tubule development)
presents w/ renal failure earlier Found commonly in children
PKD2 (15%) Chromosome 4 presenting w/ varying levels of
Defect in these genes encoding a kidney + liver disease
membrane protein
Signs + symptoms Signs + symptoms
Pain (due to renal cyst haemorrhage) HTN, CKD-like, chronic resp
HTN infections
Haematuria Failure to thrive
Renal stones Recurrent UTI
Recurrent UTIS
Polyuria
Palpable bilateral flank masses
Extra-renal Liver cysts (70%), berry
aneurysms (8%), CVS: mitral valve Ix
prolapse, mitral/tricuspid incompetence, Antenatal USS
aortic root dilatation, aortic dissection, Early infancy abdominal
cysts in other organs (e.g. pancreas, mass/renal failure
spleen)
Imaging: USS enlarged
‘Liver cysts Aneurysms Mitral valve kidneys w/ or w/o
prolapse Berry aneurysm (SAH)’ oligohydramnios
Renal biopsy: multiple
Ix cylindrical lesions @ right
Bloods angles to the cortical surface
Urinalysis + culture
Genetic screening + monitor BP
USS (screening Ix for relatives = abdominal Mx
USS) Medical
USS criteria (in patients w/ positive FHx) o Ventilation + LTOT
Two cysts, uni/bilateral, if aged < 30 yrs o Rx HTN
Two cysts in both kidneys if aged 30-59 yrs o Abx for ITU
Four cysts in both kidneys if aged > 60 yrs
o Diuretics for fluid
Mx Surgical
Rx HTN o Combined renal +
Abx for UTI liver transplant
Surgical: cyst decompression or
nephrectomy
ESRF in 70% by 70 dialysis/transplant
Autosomal Dominant PKD (ADPKD) Autosomal Recessive PKD
Most commonly inherited cause of kidney (ARPKD)
disease Defect in PKHD1 Chromosome
Affecting 1 in 1000 Caucasians
PKD1 + PKD2 code for polycystin- 1 & 2
6 encodes fibrocystin
respectively (important for normal renal
PKD1 (85%) Chromosome 16 tubule development)
presents w/ renal failure earlier Found commonly in children
PKD2 (15%) Chromosome 4 presenting w/ varying levels of
Defect in these genes encoding a kidney + liver disease
membrane protein
Signs + symptoms Signs + symptoms
Pain (due to renal cyst haemorrhage) HTN, CKD-like, chronic resp
HTN infections
Haematuria Failure to thrive
Renal stones Recurrent UTI
Recurrent UTIS
Polyuria
Palpable bilateral flank masses
Extra-renal Liver cysts (70%), berry
aneurysms (8%), CVS: mitral valve Ix
prolapse, mitral/tricuspid incompetence, Antenatal USS
aortic root dilatation, aortic dissection, Early infancy abdominal
cysts in other organs (e.g. pancreas, mass/renal failure
spleen)
Imaging: USS enlarged
‘Liver cysts Aneurysms Mitral valve kidneys w/ or w/o
prolapse Berry aneurysm (SAH)’ oligohydramnios
Renal biopsy: multiple
Ix cylindrical lesions @ right
Bloods angles to the cortical surface
Urinalysis + culture
Genetic screening + monitor BP
USS (screening Ix for relatives = abdominal Mx
USS) Medical
USS criteria (in patients w/ positive FHx) o Ventilation + LTOT
Two cysts, uni/bilateral, if aged < 30 yrs o Rx HTN
Two cysts in both kidneys if aged 30-59 yrs o Abx for ITU
Four cysts in both kidneys if aged > 60 yrs
o Diuretics for fluid
Mx Surgical
Rx HTN o Combined renal +
Abx for UTI liver transplant
Surgical: cyst decompression or
nephrectomy
ESRF in 70% by 70 dialysis/transplant
