Inherited Kidney Disorders

Question 1

how is polycystic disease most commonly inherited?

Answer 1

autosomal dominant

Question 2

most common hereditary severe kidney disease

Answer 2

autosomal odminant polycystic kidney disease

Question 3

most common genetic mutation in polycystic kidney disease and where it is?

Answer 3

PDK1 gene on chromosome 16

Question 4

PDL2 mutation is present on what chromosome?

Answer 4

4

Question 5

which genetic mutation is most common in PKD?

Answer 5

PKD 1

Question 6

PKD2 patients develop end stage kidney disease quicker than PKD1 patients: T or F

Answer 6

F, PKD1 do

Question 7

cycts arise from what structures of the kidney in PKD?

Answer 7

renal tubules

Question 8

do cysts affect the overall kidney size?

Answer 8

yes, kidneys get much bigger

Question 9

why do patients experience pain in PKD?

Answer 9

stretching of the renal capsule due to hypertrophy

can get infection of the cyst

Question 10

why can you get haematuria in PKD?

Answer 10

cyst rupture
cystitis
stones

Question 11

what does the urine of someone with ADPKD look like and why?

Answer 11

very dilute, cannot concentrate their urine

Question 12

how is cyst infection treated?

Answer 12

need to inject Abs straight into the cyst

Question 13

general Tx of ADPKD

Answer 13

control risk factors - ht etc
hydrate patients
tolvaptan to decrease cyst vol
dialysis
renal transplant

Question 14

hypertension is found at a very young age in ADPDK patients T or F

Answer 14

T

Question 15

why do you get oedema symptoms in ADPKD?

Answer 15

cysts can compress:
renal veins
IVC

Question 16

which tends to present first:
liver cysts
renal cysts

Answer 16

renal (usually about 10yrs before liver)

Question 17

liver function is massively altered in ADPKD T or F

Answer 17

F, usually stays the same

Question 18

patients with ADPKD who have a family history of what condition should be screened as they are at risk?

Answer 18

intracranial aneurysms

Question 19

cardiac effects of ADPKD?

Answer 19

valvular disease - mitral/aortic valve prolapse

Question 20

incidence of hernias is increased in ADPKD T or F

Answer 20

T

Question 21

how is ADPKD diagnosed radiologically?

Answer 21

USS

CT/MRI if USS is unclear

Question 22

what would you be looking for on imaging of ADPKD?

Answer 22

renal enlargement

bilateral cysts

Question 23

are cysts usually bilateral or unilateral in autosomal recessive PKD?

Answer 23

bilateral

Question 24

how would you investigate ADPKD using genetics?

Answer 24

take a family history

linkage and mutation analysis

Question 25

you can only get ADPKD beyond 1yr of age T or F

Answer 25

F, can get it in utero

Question 26

the offspring of an infected individual with ADPKD is _% likely to get the disease

Answer 26

50%

Question 27

what drug should be given to reduce cyst volume?

Answer 27

tolvaptan

Question 28

what management option is best for decreasing proteinuria?

Answer 28

hypertension control

Question 29

who gets autosomal recessive kidney disease?

Answer 29

young children

Question 30

liver lesions are associated with what type of inheritance?

Answer 30

autosomal recessive

Question 31

are cysts bilateral or unilateral in ADPKD?

Answer 31

can be either

Question 32

what gene is involved in ARPKD and what chromosome is it on?

Answer 32

PKDH1 on chromosome 6

Question 33

where in the kidney are cysts seen in ARPKD?

Answer 33

appearing from the collecting ducts

Question 34

the kidneys are palpable in ARPKD T or F

Answer 34

T

Question 35

GFR rapidly decreases in ARPKD T or F

Answer 35

F, it is a very slow decline

Question 36

which PKD gets recurrent UTIs?

Answer 36

autosomal recessive

Question 37

how is alports syndrome inherited?

Answer 37

x linked

Question 38

what actually is alports syndrome?

Answer 38

an inherited nephritis

Question 39

mutation is in what gene in alports syndrome?

Answer 39

COL4A5 gene

Question 40

characteristic feature of alports?

Answer 40

haematuria

Question 41

what kind of deafness is associated with alports?

Answer 41

sensorineural deafness

Question 42

patient presents with haematuria + hearing loss....

Answer 42

alports syndrome

Question 43

findings on renal biopsy of a patient with alports?

Answer 43

variable thickness glomerular BM | splitting of lamina densa

Question 44

Tx of alports?

Answer 44

treat BP for proteinuria dialysis transplantation

Question 45

anderson fabrys disease affects what organs?

Answer 45

kidneys liver lungs

Question 46

inheritance of anderson fabrys disease?

Answer 46

x linked

Question 47

anderson fabrys disease is a deficiency of what enzyme

Answer 47

alpha galactosidase a

Question 48

how is anderson fabrys disease diagnosed?

Answer 48

renal and skin biopsy

Question 49

clinical features of anderson fabrys disease?

Answer 49

``` renal failure cardiomyopathy + valvular disease angiokeratomas stroke confusion ```

Question 50

skin manifestation of anerson fabrys disease?

Answer 50

angiokeratoma (hyperkeratosis causing red/blue marks)

Question 51

how is anderson fabrys treated?

Answer 51

enzyme replacement | manage complications

Question 52

how is medullary cystic kidney disease inherited?

Answer 52

AD

Question 53

pathophysiology of medullary cystic kidney?

Answer 53

abnormal renal tubules leading to fibrosis

Question 54

where are the cysts located in MCK?

Answer 54

corticomedullary junction

Question 55

how is MCK diagnosed?

Answer 55

FHx | CT scan

Question 56

what age does MCK typically present?

Answer 56

around mid 20s

Question 57

Tx for MCK?

Answer 57

renal transplant

Question 58

inherited disease causing dilation of collecting ducts?

Answer 58

medullary sponge kidney

Question 59

cysts contain calculi in medullary sponge kidney T or F

Answer 59

T

Question 60

how is medulalry sponge kidney diagnosed?

Answer 60

excretion urography