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Renal > Inherited Kidney Disorders > Flashcards

Inherited Kidney Disorders Flashcards

1
Q

is AD or AR polycystic disease more common

A

AD (the most frequent life-threatening hereditary disease)

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2
Q

what is the AD polycystic kidney disease (PKD) mutation

A

on chromosome 16
in PKD gene 1
or
on PKD gene 2 on chromo 4

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3
Q

which ADPKD mutation is more

A

PKD gene 1 develop ESRD at an earlier stage

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4
Q

what is the pathology of ADPKD

A

massive cyst enlargement (large kidneys)
epithelial lined cysts (arise from renal tubules)
benign adenomas (can have cystic transformation into malignant)

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5
Q

what are the renal clinical features of ADPKD

A

reduced urine concentration ability
chronic pain (cysts cause renal capsule to stretch)
hypertension, early (31 years)
haematuria (cyst rupture, cystitis, stones)
cyst infection
renal failure

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6
Q

what are the extra renal ADPKD clinical features

A 
hepatic cysts (present 10 years after renal cysts- can cause SOB, pain, ankle swelling)
intra cranial aneurysms 
cardiac disease (mitral/aortic valve prolapse, valvular disease)
diverticular disease 
hernias (abdo/inguinal)
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7
Q

how do you diagnose ADPKD

A

radiological (USS of multiple bilateral cysts, renal enlargement, CT/MRI when unclear on USS)
genetic (linkage/ mutation analysis)

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8
Q

how do you differentiate AD from AR PKD in children

A

difficult- congenital hepatic fibrosis suggestive of AR

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9
Q

what are the features of ADPKD in children

A

renal involvement similar to adults

can begin in utero or first year of life

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10
Q

what is the management of ADPKD

A 
hypertension control fro young age 
hydratio 
proteinuria reduction 
cyst haemorrhage + infection Tx
tolvaptan (carbonic anhydrase inhibitor that reduces cyst volume and progression)
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11
Q

what is the Tx for renal failure in ADPKD

A

dialysis

transplant (before dialysis best prognosis)

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12
Q

what are the features of ARPKD

A

young children
hepatic lesions
(rare)
bilateral and symmetrical renal involvement
normal urinary tract
histologically- cysts appear from the collecting duct system

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13
Q

how does ARPKD present

A 
varies dependin on renal/ liver lesions
kidneys always palpable 
hypertension 
recurrent UTIs
slow decline in GFR
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14
Q

what is the prognosis of ARPKD

A

infants who survive neonate period have mortality rate of 9% to 24% in first year
past that 80% survival beyond 15 years

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15
Q

what is alports syndrome

A

hereditary nephritis

disorder of type 4 collagen matrix - leads to deficient collagenous matrix

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16
Q

what type of inheritance is alports

A

X linked

17
Q

what are the manifestations

A

haematuria (damage to glomeruli)
proteinuria (in later stages, bad prognosis)

sensorineural deafness
oculae defects- anterior lenticonus
leiomyomatosis of oesophagus (swallowing difficulty)/ genitalia

18
Q

how do you diagnose alports

A

suspect it in haematuria +/- hearing loss

renal biopsy = variable thickness GBM

19
Q

what is the management for alports

A

standard agressive tx of BP and proteinuria

dialysis/ transplantation

20
Q

what is anderson fabrys disease

A

Inborn error of Glycosphingolipid metabolism
kidneys, liver, lungs, erythrocytes
uncommon

21
Q

what inheritance is anderson fabrys disease

A

X linked lysosomal storage disease

22
Q

what are the clinical features of fabrys disease

A 
renal failure 
angiokeratomas (skin)
cardiomyopathy, valvular disease 
stroke, acroparasthesia 
psychiatric
23
Q

how do you diagnose fabrys disease

A

plasma/ leukocytes a-GAL activity
renal biopsy
skin biopsy

(concentric lamellar inclusions within lysosomes)

24
Q

what is the treatment for anderson fabrys disease

A 
enzyme replacement (fabryzyme) 
management of complications
25
Q

what is medullary cystic kidney

A

rare inherited cystic disease (AD)
abnormal renal tubules leading to fibrosis
normal/ small kidneys
cysts are in the corticomedullary junction/ medulla

26
Q

how do you diagnose medullary cystic kidney

A

family history, CT scan

Presents average age 28 yrs

27
Q

what is the treatment for medullary cystic kidney

A

transplantation

28
Q

what is medullary sponge kidney

A 
Sporadic Inheritance
Dilatation of collecting ducts
Severe cases- medullary area appears 				like a sponge
Cysts have calculi
renal failure rare
29
Q

how do you diagnose medullary sponge kidney

A

Excretion Urography-to demarcate calculi in cysts

30
Q

what is the most common inherited renal disorder

A

ADPKD

31
Q

what is the first pharmacological option for treating ADPKD

A

tolvaptan

Renal (27 decks)

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