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RB Y2 Renal > Inherited Kidney Disease > Flashcards

Inherited Kidney Disease Flashcards

1
Q

ADPKD genetics

A
  • 80% have mutations in PKD1 on chromosome 16 - severe, early disease
    • most reach ESRF by 50
  • the remainder have PKD2 mutations on chromosome 4 - slower, later course
    • reach ESRF by 70
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2
Q

ADPKD - is there a malignant risk

A

there is a small risk of malignant transformation with enlargement - benign adenomas

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3
Q

ADPKD - natural disease progression

A
  • the natural history of the disease is progressive CKD, sometimes punctuated by acute loin pain and haematuria, and associated with the early development of hypertension
  • the rate of progression to CKD is variable
  • most will need transplant/dialysis by the age of 70
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4
Q

signs of ADPKD

A
  • renal enlargement with cysts
  • abdominal pain
  • reduced urine concentrating ability
  • hypertension
  • haematuria
  • cyst rupture
  • stones
  • cyst infection, cystitis
  • renal failure
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5
Q

urinary symptoms of ADPKD

A

reduced urinary concentrating ability results in excessive water and salt loss and may present as nocturia

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6
Q

hypertension in ADPKD

A
  • early, common
  • large fluid filled cysts can compress neighbouring blood vessels, and the kidneys respond to poor perfusion by activating RAAS
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7
Q

abdominal pain in ADPKD

  • cause
  • management
A
  • cysts can stretch the renal capsule and cause chronic pain
  • can be resistant to common analgesics - may need surgical decompression to relieve pain
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8
Q

how do you treat cyst infection

A

need injected ABx as systemic ones will have little penetration

may require drainage

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9
Q

what is the most common extra renal manifestation of ADPKD

A

hepatic cysts

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10
Q

when do hepatic cysts tend to present in ADPKD

A

around ten years after having renal cysts

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11
Q

presentation of hepatic cysts in ADPKD

A
  • liver function generally well preserved
  • may result in SOB, pain and ankle swelling through hypertension
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12
Q

intra-cranial aneurysms in ADPKD

A
  • seen in around 5% patients
  • found in clusters in family members, so screen and treat prophylactically if reason to suspect
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13
Q

how/who can one screen for intra-cranial aneurysms

A

magnetic resonance angiography - in 1st degree relatives of those with SAH and ADPKD and some occupations eg pilot

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14
Q

what can intra-cranial aneurysms lead to

A
  • sub-arachnoid haemorrhage associated with berry aneurysm rupture
  • can cause haemorrhagic stroke
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15
Q

pan systolic murmur and ADPKD

A
  • mitral valve prolapse - the most common cause of mitral regurgitation
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16
Q

cardiac features of ADPKD

A
  • aortic/mitral valve prolapse
  • valvular disease eg collagenous/myxomatous degeneration
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17
Q
A
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18
Q

how will aortic regurgitation present

A

early diastolic murmur

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19
Q

ADPKD and abnormal bowel symptoms

A

diverticular disease - increased risk or prevalence and complications

  • Diverticular disease may be an incidental finding, or can present with LIF pain, altered bowel habit, flatulence, nausea
  • Diverticulitis causes the above but with a sudden onset, raised inflammatory markers, generalised peritonism
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20
Q

hernias and ADPKD

A

there is an increased risk of abdominal and inguinal hernias

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21
Q

diagnosis of ADPKD

A
  • US presence of cysts is diagnostic (best screening test also)
    • 2 cysts, unilateral or bilateral, if aged <30 years
    • 2 cysts in both kidneys if aged 30-59 years
    • 4 cysts in both kidneys if aged >60 years
  • Renal enlargement (>14cm merits further investigation)
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22
Q

if diagnosis of ADPKD is unclear on US, what should be performed

A

MRI (or CT)

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23
Q

what is seen on the kidneys in imaging

A

renal enlargement (>14cm merits further investigation)

cysts

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24
Q

genetic screening in ADPKD

A
  • screening for PKD2 mutations
  • linkage analysis
  • genetic counselling is required pre and post testing
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25
when can ADPKD onset in children
in utero or 1st year of life
26
what does US suggestions of congenital hepatic fibrosis suggest
ARPKD
27
mangement of ADPKD
* rigorous hypertension management * hydration - inc water and dec sodium * proteinuria reduction * manage CV risk * treat cyst infections/haemorrhage
28
blood pressure target in ADPKD
\<130/80 mmHg
29
what drug is available for ADPKD
**tolvaptan** (vaspressin receptor II antagonist) - reduces cyst volume and progression
30
ARPKD
* rare * younger patients * associated with hepatic lesions eg congential hepatic fibrosis * bilateral, symmetrical renal involvement * overall shape of kidney maintained * cysts appear from the collecting duct system – elongated dilatation of medullary collecting ducts
31
genetics of ARPKD
* PKDH1 on chromosome 6
32
what can be seen pre-natally on US with ARPKD
* renal failure before birth causing trouble producing urine - as amniotic fluid comes from urine this causes oligohydramnios * bilaterally large kidneys * cysts
33
clinical presentation of ARPKD
* palpable kidneys - bilaterally * hypertension * recurrent UTI * congenital hepatic fibrosis * cholestasis/ascending cholangitis if bile ducts affected
34
how does CHF present in ARPKD
portal hypertension * oesophageal varices * upper GI bleed * haemorrhoid * splenomegaly
35
prognosis of ARPKD
* many die in early life * slow decline in renal function * around half are severely affected * those who survive the 1st year of life have a much higher survival probability than those who are in the neonatal period
36
acquired cystic disease
* can occur in those who have CKD or ESRD * multiple cysts occur only in kidneys * often just an incidental finding, however can infection etc causing haematuria etc
37
Alport syndrome
* x linked * due to mutations of COL4A5 gene which encodes type IV collagen leading to a deficient collagenous matrix
38
Alport syndrome: where is type IV collagen found
kidney, eye, cochlea
39
pathophysiologyh of Alport syndrome
* kidney function is normal throughout childhood * over time deficient type IV collagen causes GBM to become thin and leaky allowing RBC through * eventually undergoes sclerosis * renal insufficiency
40
when do clinical features start in Alport syndrome
develop in childhood/early adulthood
41
clinical features of Alport syndrome
* haematuria due to leaky GBM - microscopic to macroscopic * proteinuria is seen later and confers a bad prognosis * sensorineural deafness * ocular defects
42
what ocular defects are seen in Alport syndrome
* anterior lenticonus: lens protrudes anteriorly into anterior chamber due to a thin and fragile basement membrane * recurrent corneal erosions
43
what is seen on renal biopsy in Alport syndrome
variable thickness in GBM and splitting
44
diagnosis of Alport syndrome
clinical suspicion renal biopsy
45
management of Alport syndrome
* there is no specific treatment * aggressive treatment of BP and proteinuria * dialysis/transplant
46
typical age of death with Alport syndrome
20-30 years
47
Fabry's disease
* X linked lysosomal storage disorder caused by abnormalities in the GLA gene, leading to a deficiency in a-galactosidase A * there is an accumulation of glycosphingolipids nthe skin, eyes, heart, kidneys CNS and nerves
48
diagnosis of Fabry's disease
* a-galactosidase A activity (plasma/leucocytes) * renal biopsy * skin biopsy
49
clinical features of Fabry's disease
* renal failure * skin: angiokeratomas (clusters, dark red-blue) * cardiac: angina, MI, syncope, cardiomyopathy, dyspnoea * neurological: stroke * psychiatric
50
treatment of Fabry's disease
* enzyme replacement therapy with Fabrazyme * once monthly infusion for life * manage complications
51
what are the 2 forms of medullary cystic kidney
juvenile - AuR adult form - AuD
52
what happens in medullary cystic kidney
* rare inherited disorder * tubular loss and cortico-medullary junction cyst formation * fibrosis, inflammation and atrophy of tubules
53
clinical features of medullary cystic kidney
* shrunken kidneys * cysts at CM junction * salt wasting, polyuria, polydipsia, ensuresis (tubules not functioning)
54
extra renal features in medullary cystic kidney
none other than gout caused by hyperuricaemia
55
diagnosis of medullary cystic kidney
family history and CT scan
56
management of medullary cystic kidney
renal transplant
57
medullary sponge kidney
* uncommon and congenital - sporadic inheritance * dilatation of the collecting ducts, and medullary area appears like a sponge due to numerous small cysts appearing around collecting ducts
58
presentation of medullary sponge kidney
* later in life can present with nephrolithiasis - stones that form in the collecting ducts due to failure of kidneys to properly reabsorb/secrete solutes
59
diagnosis of medullary sponge kidney
excretion urography to demarcate calculi
60
renal failure in medullary sponge kidney
unusual

RB Y2 Renal (26 decks)

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