inherited renal diseases Flashcards
(34 cards)
what is the most common inherited renal disease
Autosomal Dominant Polycystic kidney disease
what causes Autosomal Dominant Polycystic kidney disease
mutation on nephrin
what type of mutation causes Autosomal Dominant Polycystic kidney disease
PKD1 (85%)
PKD2
when do the symptoms of Autosomal Dominant Polycystic kidney disease occur
adulthood
what are the symptoms of Autosomal Dominant Polycystic kidney disease
many renal cysts = enlarged kidney liver cysts = pain, ankle swelling chronic pain hypertension haematuria renal failure
what are the investigations of Autosomal Dominant Polycystic kidney disease
US
CT/MRI if US is unclear
what would you expect to see on US of Autosomal Dominant Polycystic kidney disease
multiple bilateral cysts
renal enlargement
what is the treatment of Autosomal Dominant Polycystic kidney disease
control BP
reduce cysts
dialysis/transplant if kidneys fail
what medication is used to reduce cyst volume
tolvaptan
who is affected by
Autosomal Recessive Polycystic Kidney Disease
children
what causes
Autosomal Recessive Polycystic Kidney Disease
PKDH1 located on chromosome 6
what are the symptoms of
Autosomal Recessive Polycystic Kidney Disease
bilateral and symmetrical renal involvement renal cysts within the collecting duct liver cysts hypertension recurrent UTIs
what are the investigations of
Autosomal Recessive Polycystic Kidney Disease
US
CT/MRI if US is unclear
eGFR = slwo decline
what would you expect to see on US of Autosomal Recessive Polycystic Kidney Disease
multiple bilateral cysts
renal enlargement
what is alports syndrome also known as
hereditary nephritis
what is the cause of alports syndrome
disorder of type IV collagen matrix du eto COL4A5 mutation
how is alports syndrome inherited
X-linked
what are the symptoms of alports syndrome
haematuria
sensorineural deafness
ocular defects = anterior lenticonus
proteinuria = late stage
what is the investigation of alports syndrome, what would you expect to find
renal biopsy = variable thickness of GBM
what is the treatment of alports syndrome
no specific treatment
address BP and Proteinuria = ACEI/ARB
dialysis/transplant
what is Anderson Fabrys Disease
rare genetic disease causing the build up of fat in the body
storage disease
how is Anderson Fabrys Disease inherited
X-linked
what is the mutation in Anderson Fabrys Disease
mutation in the glycosphingolipid metabolism
what are the symptoms of Anderson Fabrys Disease
renal failure
cutaneous angiokeratoma
cardiomyopathy
valve disease
