inherited dosroders

Question 1

polycystic kidney disease is what

Answer 1

autosom dom predom variant
auto rec

Question 2

adpkd

Answer 2

most frequent life-threatening hereditary kidney disease

Question 3

adpkd mutations

Answer 3

pkd gene1 (85% cases on chromosome16)
pkd2 (15% cases on chromosome4)
pkd1 develope end stage kidney failure EARLIER

Question 4

pathology of adpkd

Answer 4

massive cyst enlargement-large kidneys

epithelial lined cysts from small pop renal tubules

(25% of kidneys) benign adenomas

Question 5

clin fts adpkd

Answer 5

reduce urine conc ability
chronic pain
hypertension common early (31yrs mean)
haematuria - cyst rupture, cystitis, stones
cyst infection
renal failure

Question 6

extra renal clin features

Answer 6

HEPATIC CYSTS
mc extra renal manifestation
liver cysts present 10yrs after renal cysts
liver function generally preserved
can result in SOB, pain, ankle swelling

INTRA CRANIAL ANEURYSMS
4-8%pts
seen in clusters of fam membs
mainly in ant. circulation terriroty
screening indiciated in patients w/ fh

Question 7

more extra renal !

Answer 7

CARDIAC
mitral/aortic valve prolapse
valvular disease - collagenous/myxomatous degeneration

DIVERTICULAR
increased prevalence and complications -ots on dialysis
diverticulitis & colonic perforation -2 serious comps

HERNIAS
increased incidnece of abdominal/inguinal herniams (45%)

Question 8

diagnosing adpkd

Answer 8

RADIOLOGICAL:
US presence of multiple bilateral cysts
renal enlargment
CT/MRI when unclear on USS

GENETIC:
linkage analysis
mutation analysis

Question 9

adpkd children

Answer 9

early onset in uteri or first yr life
siblings inc risk of early disease
similar renal involv as adults
single cyst in high risk pts enough for dx
cerebral aneurysms rare in children
diff to distinguish from arpkd - uss suggests congenital hepatic fibrosis (suggesting recessive dis)

Question 10

genetic pattern adpkd

Answer 10

offspring of affected = 50% risk of having disease

Question 11

management adpkd

Answer 11

hypertension-rigorous control
hydration
proteinuria reduction
cyst haemorrhage+ cyst infection

new treatment:
reduce cyst volume and progression – Tolvaptan (ADH (AVP) receptor antagonist)

renal failure:
dialysis
transplant
cv and cerebrovasc causes- death

Question 12

auto rec kidney disease

Answer 12

mainly young child affected and assoc w/ hepatic lesions

rare (1/20 000)
pkdh1 gene chrom6
renal involvement bilateral symmetrical
generally normal urinary tract
histologically cysts seen appearing from collecting duct system
(involvement may be 30-90% of ducts depending on severity)

Question 13

clin pres aRpkd

Answer 13

varies and depens on renal/liver lesions

relevance is diff between severe forms and neonatal period survival

kidney palpable always

hypertension

recurrent UTIs

slow decline in GFR (less than 1/3 reach dialysis)

Question 14

ARPKD prognosis

Answer 14

30 - 50% children affected SEVERE
infants who survive neonate 9-24% survive year 1
cjildren who survive year 1 have 80% prob over 15yrs

Question 15

acquired cystic disease (radiology app.)

Answer 15

multiple parapelvic cysts of right kidney seen on US or excretory urogram

Question 16

alports (hereditary nephritis)

Answer 16

1-2%pts w/ ESRD
x linkied inheritance (85%)
disorder of type IV collagen matrix
mutation in COL4A5 gene leads to deficient collagenous matrix deposition

Question 17

manifestation of alports

Answer 17

haematuria (classic fature)
proteinuria later but thats bad progn

EXTRA RENAL
(sensorineural deafness, ocular defects-anterior lenticonus, leiomyomatosis of oesophagus/genitalia-rare)

Question 18

diagnosing alports

Answer 18

suspect w/ microscopic haematuria +-hearing loss

renal biopsy (varible thickness GBM - classic)

thickening of GBM w/ splitting of lamina densa electron microscopy

Question 19

alport treatment

Answer 19

no specif
standard treat BP, proteinuria
dialysis/transplant

Question 20

anderson fabrys

Answer 20

inborn error of Glycosphingolipid metabolism (deficiency of a-galactosidase A)

x linked disease lysosomal storage disease

affects kidneys, liver,lungs,erythrocytes

uncommon

Question 21

clinical features of anderson fabrys

Answer 21

renal failure
cutaneous- angiokeratomas
cardiac- cardiomyopathy,valvular disease
neuro-stroke,acroparaesthesia
psych

Question 22

diagnosis fabrys

Answer 22

plasma/leukocyte a-GAL activity
renal biopsy
skin biopsy

(shows concentric lamellar inclusion within lysosymes)

Question 23

treating fabrys

Answer 23

enzyme replacement-fabryzyme
managing complications

Question 24

medullary cystic kidney

Answer 24

rare inherited cystic disease (auto dom)
morphologically abnormal renal tubules leading to fibrosis
affected - normal/small kidneys
cysts in corticomedullary junction/medulla

Question 25

med cyst kidney appearance

Answer 25

macroscopic appearance - cortex medullar both shrunken, irregular distrib cysts of vary size at corticomedul junction and outer medul

Question 26

med cyst kid

Answer 26

dx - fh, CT scan
presents average 28yrs
renal transplantation (choice of tx)