ADPKD Flashcards
What is Autosomal dominant polycystic kidney disease
Inherited disease causing Renal cycsts and extrarenal manifestations incl hepatic cysts, intracranial aneurysms and aortic root dialatiation
When do patietns with ADPKD typically present
30-60 - renal cysts start affecting kidney function
Presentitng symptoms ADPKD
Haematuria
Loin pain
HPTN
Recurrent UTIs
Kindye stones
Headache
Cause of ADPKD
Mutation in PKD1 or PKD2 coding for polycystin 1 or 2 (membran proteins)
What do renal cysts cause
Increased kidney volume
Compression of normal renal architecture
Intersitial fibrosis
Tubular atrophy
Progressive renal impairemtn
Which ADPKD type is more severe
Type 1 - more severe symptoms. 85% cases. Chromosome 16 rather than 4 in type 2
What can a headahce in ADPKD be a sign of
Ruptured berry aneurysm and subsequent SA haemorrhage
Signs of ADPKD on examination
Palpable kidneys/abdominal mass
hepatomegaly due to hepatic cysts
Abdominal wall hernias
Cardiac murmur
What cardiac complications can ADPKD cause
mitral valve prolapse, mitral regurgitation, aortic regurgitation and dilated aortic root
HPTN -> CHD, stroke, MI
Symptoms of renal filure in ADPKD
Develop on 50s
pERIPHERAL OEDEMA
sob
POOR appetitie and weight loss
Polyuria
Pruritis
Nausea
First line investigation ADPKD
Renal US scan
Why is creatinine and eGFR not first line in ADPKD
Nomral in early stgaes - not sensitive test
What criteria is used for diagnosis of ADPKD
Ravines
Ravines criteria for 15-29 years ADPKD
Presence of 3 or more renal cysts - uni or bilateral - 94.3% sensitivity for type 1 ADPKD 69.5% typ2 2 ADPKD
Ravines criteria 30-39
2 or more rena cysts 96.6% type 1 sensitivtiy + 94 type II
Ravines critiera 40-59 years
presence of 2 or more cysts in each kidney, which has a sensitivity of 92.6% for type 1 ADPKD and 88.8% for type 2 ADPKD
What is diagnostic criteria for patients with no FH of ADPKD
> 10 cysts in each kidney
What is the differnece between ADPKD and ARPKD
Autosomal recessive PKD presents soon anfter birth and may be no FH
What is diffenrece between acquired CKD and ADPKD
Acquired a=occurs in patients with pre-existing renal disease and kidneys are usually smaller than ADPKD
Tuberous scleroisis vs ADPKD
TS - other features present such as facial angiofibromas, ash leaf spots, shagreen patches, subungal fibromas, giant cell astrocytomas and ass with epilepsy
Von hippel lindaru syndrome vs ADPKD
Both genetic
Renal cell carcinoma strongly ass w VHL but rare in ADPKD
Meducllary cystic renal disease vs ADPKD
Kidneys smaller in MCR #Reucrrent gout is a common feature
Mangement of ADPKD
Refer to nephrology
BP control
Renal pain management
Treatment UTIs (7-14 day ABS)
Treat kidney stones
Managing ESR in ADPKD
Renal transplantation
Dialysis is second line - haemodialysis is preferred
Medication in ADPKD
Tolvaptan
What does tolvaptan do
- slow cyst progression and renal insufficiency in adults with ADPKD
When can use tolvaptan
IF - CKD stage 2 or 3 when start treat
Evidence rapidly progression
Side effects of tolvaptan
vasopressin V2 receptor antagonist
thirst, polyuria and nocturia
What can hepatic cysts cause
heartburn, nausea, early satiety and an increased abdominal circumference
How prevent SAH in ADPKD
Offer MR angiography 1-5 year intervals for IC aneurysms
Can treat surically to avid rupture
Pregnancy complications
Incidence of gestational HPTN and preeclampsia higher
HPTN - adveerse outcomes
Factors indicating poor prognosis in ADPKD
Earlier age at diagnosis
Male sex
Type 1 ADPKD (mutation in PKD1)
Rapidly increasing kidney size
Hypertension
