Inherited Kidney Disorders Flashcards
how is polycystic disease most commonly inherited?
autosomal dominant
most common hereditary severe kidney disease
autosomal odminant polycystic kidney disease
most common genetic mutation in polycystic kidney disease and where it is?
PDK1 gene on chromosome 16
PDL2 mutation is present on what chromosome?
4
which genetic mutation is most common in PKD?
PKD 1
PKD2 patients develop end stage kidney disease quicker than PKD1 patients: T or F
F, PKD1 do
cycts arise from what structures of the kidney in PKD?
renal tubules
do cysts affect the overall kidney size?
yes, kidneys get much bigger
why do patients experience pain in PKD?
stretching of the renal capsule due to hypertrophy
can get infection of the cyst
why can you get haematuria in PKD?
cyst rupture
cystitis
stones
what does the urine of someone with ADPKD look like and why?
very dilute, cannot concentrate their urine
how is cyst infection treated?
need to inject Abs straight into the cyst
general Tx of ADPKD
control risk factors - ht etc hydrate patients tolvaptan to decrease cyst vol dialysis renal transplant
hypertension is found at a very young age in ADPDK patients T or F
T
why do you get oedema symptoms in ADPKD?
cysts can compress:
renal veins
IVC
which tends to present first:
liver cysts
renal cysts
renal (usually about 10yrs before liver)
liver function is massively altered in ADPKD T or F
F, usually stays the same
patients with ADPKD who have a family history of what condition should be screened as they are at risk?
intracranial aneurysms
cardiac effects of ADPKD?
valvular disease - mitral/aortic valve prolapse
incidence of hernias is increased in ADPKD T or F
T
how is ADPKD diagnosed radiologically?
USS
CT/MRI if USS is unclear
what would you be looking for on imaging of ADPKD?
renal enlargement
bilateral cysts
are cysts usually bilateral or unilateral in autosomal recessive PKD?
bilateral
how would you investigate ADPKD using genetics?
take a family history
linkage and mutation analysis
you can only get ADPKD beyond 1yr of age T or F
F, can get it in utero
the offspring of an infected individual with ADPKD is _% likely to get the disease
50%
what drug should be given to reduce cyst volume?
tolvaptan
what management option is best for decreasing proteinuria?
hypertension control
who gets autosomal recessive kidney disease?
young children
liver lesions are associated with what type of inheritance?
autosomal recessive
are cysts bilateral or unilateral in ADPKD?
can be either
what gene is involved in ARPKD and what chromosome is it on?
PKDH1 on chromosome 6
where in the kidney are cysts seen in ARPKD?
appearing from the collecting ducts
the kidneys are palpable in ARPKD T or F
T
GFR rapidly decreases in ARPKD T or F
F, it is a very slow decline
which PKD gets recurrent UTIs?
autosomal recessive
how is alports syndrome inherited?
x linked
what actually is alports syndrome?
an inherited nephritis
mutation is in what gene in alports syndrome?
COL4A5 gene
characteristic feature of alports?
haematuria
what kind of deafness is associated with alports?
sensorineural deafness
patient presents with haematuria + hearing loss….
alports syndrome
findings on renal biopsy of a patient with alports?
variable thickness glomerular BM
splitting of lamina densa
Tx of alports?
treat BP for proteinuria
dialysis
transplantation
anderson fabrys disease affects what organs?
kidneys
liver
lungs
inheritance of anderson fabrys disease?
x linked
anderson fabrys disease is a deficiency of what enzyme
alpha galactosidase a
how is anderson fabrys disease diagnosed?
renal and skin biopsy
clinical features of anderson fabrys disease?
renal failure cardiomyopathy + valvular disease angiokeratomas stroke confusion
skin manifestation of anerson fabrys disease?
angiokeratoma (hyperkeratosis causing red/blue marks)
how is anderson fabrys treated?
enzyme replacement
manage complications
how is medullary cystic kidney disease inherited?
AD
pathophysiology of medullary cystic kidney?
abnormal renal tubules leading to fibrosis
where are the cysts located in MCK?
corticomedullary junction
how is MCK diagnosed?
FHx
CT scan
what age does MCK typically present?
around mid 20s
Tx for MCK?
renal transplant
inherited disease causing dilation of collecting ducts?
medullary sponge kidney
cysts contain calculi in medullary sponge kidney T or F
T
how is medulalry sponge kidney diagnosed?
excretion urography
