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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
Q

when can ADPKD onset in children

A

in utero or 1st year of life

26
Q

what does US suggestions of congenital hepatic fibrosis suggest

A

ARPKD

27
Q

mangement of ADPKD

A
  • rigorous hypertension management
  • hydration - inc water and dec sodium
  • proteinuria reduction
  • manage CV risk
  • treat cyst infections/haemorrhage
28
Q

blood pressure target in ADPKD

A

<130/80 mmHg

29
Q

what drug is available for ADPKD

A

tolvaptan (vaspressin receptor II antagonist) - reduces cyst volume and progression

30
Q

ARPKD

A
  • 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
Q

genetics of ARPKD

A
  • PKDH1 on chromosome 6
32
Q

what can be seen pre-natally on US with ARPKD

A
  • renal failure before birth causing trouble producing urine - as amniotic fluid comes from urine this causes oligohydramnios
  • bilaterally large kidneys
  • cysts
33
Q

clinical presentation of ARPKD

A
  • palpable kidneys - bilaterally
  • hypertension
  • recurrent UTI
  • congenital hepatic fibrosis
  • cholestasis/ascending cholangitis if bile ducts affected
34
Q

how does CHF present in ARPKD

A

portal hypertension

  • oesophageal varices
  • upper GI bleed
  • haemorrhoid
  • splenomegaly
35
Q

prognosis of ARPKD

A
  • 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
Q

acquired cystic disease

A
  • 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
Q

Alport syndrome

A
  • x linked
  • due to mutations of COL4A5 gene which encodes type IV collagen leading to a deficient collagenous matrix
38
Q

Alport syndrome: where is type IV collagen found

A

kidney, eye, cochlea

39
Q

pathophysiologyh of Alport syndrome

A
  • 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
Q

when do clinical features start in Alport syndrome

A

develop in childhood/early adulthood

41
Q

clinical features of Alport syndrome

A
  • haematuria due to leaky GBM - microscopic to macroscopic
  • proteinuria is seen later and confers a bad prognosis
  • sensorineural deafness
  • ocular defects
42
Q

what ocular defects are seen in Alport syndrome

A
  • anterior lenticonus: lens protrudes anteriorly into anterior chamber due to a thin and fragile basement membrane
  • recurrent corneal erosions
43
Q

what is seen on renal biopsy in Alport syndrome

A

variable thickness in GBM and splitting

44
Q

diagnosis of Alport syndrome

A

clinical suspicion

renal biopsy

45
Q

management of Alport syndrome

A
  • there is no specific treatment
  • aggressive treatment of BP and proteinuria
  • dialysis/transplant
46
Q

typical age of death with Alport syndrome

A

20-30 years

47
Q

Fabry’s disease

A
  • 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
Q

diagnosis of Fabry’s disease

A
  • a-galactosidase A activity (plasma/leucocytes)
  • renal biopsy
  • skin biopsy
49
Q

clinical features of Fabry’s disease

A
  • renal failure
  • skin: angiokeratomas (clusters, dark red-blue)
  • cardiac: angina, MI, syncope, cardiomyopathy, dyspnoea
  • neurological: stroke
  • psychiatric
50
Q

treatment of Fabry’s disease

A
  • enzyme replacement therapy with Fabrazyme
    • once monthly infusion for life
  • manage complications
51
Q

what are the 2 forms of medullary cystic kidney

A

juvenile - AuR

adult form - AuD

52
Q

what happens in medullary cystic kidney

A
  • rare inherited disorder
  • tubular loss and cortico-medullary junction cyst formation
  • fibrosis, inflammation and atrophy of tubules
53
Q

clinical features of medullary cystic kidney

A
  • shrunken kidneys
  • cysts at CM junction
  • salt wasting, polyuria, polydipsia, ensuresis (tubules not functioning)
54
Q

extra renal features in medullary cystic kidney

A

none other than gout caused by hyperuricaemia

55
Q

diagnosis of medullary cystic kidney

A

family history and CT scan

56
Q

management of medullary cystic kidney

A

renal transplant

57
Q

medullary sponge kidney

A
  • 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
Q

presentation of medullary sponge kidney

A
  • 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
Q

diagnosis of medullary sponge kidney

A

excretion urography to demarcate calculi

60
Q

renal failure in medullary sponge kidney

A

unusual

RB Y2 Renal (26 decks)

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