Inherited Diseases Flashcards
(46 cards)
what are the two types of polycystic kidney disease?
autosomal dominant (ADPKD) autosomal recessive (ARPKD)
what causes ADPKD?
mutations in either PKD1 or PKD2
what happens to the kidneys in ADPKD?
cysts form and enlarge leading to massive kidneys
what are the renal features of ADPKD?
reduced urine concentrating ability pain hypertension haematuria infection renal failure
what are the two extra renal features of ADPKD?
hepatic cysts intra cranial aneurysms heart disease diverticula hernias
when do hepatic cysts form in ADPKD?
10 years after renal cysts
how do hepatic cysts in ADPKD present?
SOB
pain
ankle swelling
what cardiac disease is associated with ADPKD?
mitral/aortic valve prolapse
how is ADPKD diagnosed?
USS
CT/MRI if unclear on USS
how is ADPKD managed generally?
manage hypertension
manage proteinuria
treat cyst haemorrhage/infection
what drug can be used for ADPKD and how does it work?
tolvaptan
reduces cyst volume and progression
what are the options for managing renal failure in ADPKD?
dialysis
transplant
who is affected by ARPKD?
young children
what causes ARPKD?
mutation on the PKHD1 gene on chromosome 6
describe the renal involvement in ARPKD
bilateral and symmetrical
not very enlarged
where do cysts appear from in ARPKD?
collecting duct system
how does ARPKD present?
palpable kidneys
hypertension
recurrent UTI
slow decline in GFR
what is another name for Alport’s syndrome?
hereditary nephritis
how is Alport’s syndrome inherited?
x-linked inheritance
what is Alport’s syndrome a disorder of?
the type IV collagen matrix
what causes Alport’s syndrome?
mutation in the COL4A5 gene
what is the characteristic feature of Alport’s syndrome?
haematuria
what clinical feature suggests a poor prognosis in Alport’s syndrome?
proteinuria
what are three extra renal features seen in Alport’s syndrome?
sensorineural deafness
ocular defects
leiomyomatosis of the oesophagus/genitalia
