Inherited Diseases Flashcards
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
when should you suspect Alport’s syndrome?
microscopic haematuria with hearing loss
how is Alport’s syndrome diagnosed?
renal biopsy
what is seen on biopsy of Alport’s syndrome?
variable thickness of the GBM
how is Alport’s syndrome managed?
treat BP and proteinuria
dialysis/transplant if needed
what is Anderson fabry’s disease?
an inborn error of glycosphingolipid metabolism
how is Anderson fabry’s disease inherited?
x-linked
what organs are affected by Anderson fabry’s disease?
kidneys
liver
lungs
erythrocytes
what are the clinical features of Anderson fabry’s disease?
renal failure angiokeratomas cardiomyopathy valvular disease psychiatric disturbances
how is Anderson fabry’s disease diagnosed?
plasma a-GAL activity
renal biopsy
skin biopsy
what is seen on renal biopsy in Anderson fabry’s disease?
concentric lamellar inclusions within lysosomes
how is Anderson fabry’s disease managed?
enzyme replcement - fabryzyme
manage complications
how is medullary cystic kidney disease inherited?
autosomal dominant
what is the pathophysiology behind medullary cystic kidney disease?
morphologically abnormal renal tubules leading to fibrosis
what are kidneys like in medullary cystic kidney disease?
normal
where are the cysts found in medullary cystic kidney disease?
cortical-medullary junction or medulla
how is medullary cystic kidney disease diagnosed?
family history
CT
what’s the average age for diagnosis of medullary cystic kidney disease?
28
what is the treatment of choice for medullary cystic kidney disease?
renal transplant
how is medullary sponge kidney inherited?
sporadic
what is seen in the kidneys in medullary sponge kidney?
dilation of the collecting ducts
what are patients with medullary sponge kidney predisposed to?
calculi
how is medullary sponge kidney diagnosed?
excretion urography
