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Renal > Inherited Kidney Disease > Flashcards

Inherited Kidney Disease Flashcards

1
Q

what is the cause of ADPD?

A

mutation in PKD gene 1 and PKD gene 2

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2
Q

where do the cysts in ADPD arise from?

A

from renal tubular epithelium in both cortex and medulla

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3
Q

what do PKD-1 and PKD-2 code for?

A

polycystin 1 and 2 proteins

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4
Q

what is the role of polycystin 1 and 2 proteins?

A

Components of primary cillia= appendages that stick out from cells and receives developmentally important signals – when filtrate flows through nephron cillia bend allowing influx of calcium which activates pathway of cell inhibition of proliferation

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5
Q

what is the pathophysiology of ADPD?

A

absence of component of primary prevents inhibition of cell proliferation - cells to continue to proliferate abnormally – expresses proteins that allow water to enter lumen of cyst – grow in size

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6
Q

what are the renal clinical features of ADPD?

A

recued urine concentration ability, renal enlargement, chronic flank pain, hypertension, haematuria (cyst rupture, cystitis, stones), cyst infection, renal failure

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7
Q

what are the extra renal clinical features of ADPD?

A

o Hepatic cysts – function preserved, result in SOB, pain, ankle swelling
o Intracranial – anterior circulation (Berry aneurysms)
o Cardiac – mitral/aortic valve prolapse
o Collagenous degeneration (aortic root dilation)
o Diverticular
o Hernias
o Ovarian cysts

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8
Q

how is ADPD diagnosed?

A
  • Radiological – US

* Genetic - linkage and mutation analysis

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9
Q

what is the criteria for ADPD?

A

o Age 18-39, >3 unilateral or bilateral cysts
o Age 40-59, >2 cycts in each kidney
o Age >60, >4 cysts in each kidney

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10
Q

what is the management of ADPD?

A 
Counselling
Hypertension control
Hydration
Tolvaptan 
Dialysis + Transplant
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11
Q

what are the indications for tolvaptin in ADPD management?

A

CKD 2 or 3, rapidly progressing, discount agreed

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12
Q

What is the cause of ARKD?

A

mutation of PKDH1 on chromosome 6

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13
Q

what are the clinical features of ARKD?

A
  • Palpable kidneys
  • Hypertension
  • Recurrent UTIs
  • Slow decline in GFR
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14
Q

what does PKDH1 code for?

A

fibrocystin

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15
Q

what is the pathophysiology of ARKD?

A

similar to ADPKD

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16
Q

where do the ducts in ARK arise from?

A

collecting duct system

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17
Q

what is the cause of Alports Disease?

A

mutation of COL4A5 (X linked inheritance), also COL4A3, COL4A4

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18
Q

what is the underlying mechanism of alports disease?

A

Disorder of Type 4 collagen

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19
Q

what is the structure of collagen?

A

o Sheet like structure composed of tightly packed heterotrimers (made of 3 alpha chains composed of Alpha 3/Alpha 4/Alpha)

20
Q

what is the consequence of Alports Disease on collagen?

A

o Mutations mean glycine molecule is replaced with larger molecule – can’t pack tightly

21
Q

what is the pathophysiology of Alports Disease?

A
  • Missing or non function collagen IV causes GBM to become thin + more porous
  • Allows red blood cells to pass (haematuria) – proteins are able to pass through (proteinuria) – GBM undergoes sclerosis – renal failure + hypertension
22
Q

what are the clinical features of alports?

A

Haematuria – (microscopic, then macroscopic + proteinuria)
Raised BP
Sensorineural deafness
Anterior lenticonus

23
Q

what is the histology features of Alports disease?

A

variable thickened GBM with splitting, basket weave

24
Q

what is the management of Alports Disease?

A

no specific treatment
standard aggressive treatment of BP, proteinuria
Dialysis/Transplantation

25
Q

what is the cause of Anderson Fabry’s Disease

A

deficiency of a-galactosidase A due to X linked mutation

26
Q

what is the pathophysiology of Anderson Fabry’s Disease?

A

error of glycosphingolipid metabolism leading to accumulation of globotriasylceramide within blood vessels, kidneys, liver, lungs, erythrocytes

27
Q

what are the clinical features of Anderson Fabry’s Disease?

A
  • Renal failure
  • Cutaneous – angiokeratomas
  • Cardiac – cardiomyopathy, valvular disease
  • Neurological – stroke, acroparaesthesia
  • Psychiatric
28
Q

how is Anderson Fabry’s Disease diagnosed?

A
  • Plasma/leukocyte a-GAL activity
  • Renal biopsy
  • Skin biopsy
29
Q

what are the histological features of Anderson Fabry’s Disease?

A

concentric lamellar inclusions with lysomes

30
Q

what is the management of Anderson Fabry’s Disease?

A
  • Enzyme replacement – fabryzyme – once a month infusions for rest of life
  • Management of complications – dialysis or transplant
31
Q

what is the shared pathophysiology of Nephronophthisis and MCKD?

A
  • Interstitium is infiltrated by macrophages + becomes fibrotic
  • Tubules lose ability to concentrate urine
  • Glomeruli become sclerosed and cysts appear renal insufficiency – renal failure
32
Q

where do cysts arise in Nephronophthisis and MCKD?

A

corticomedullary junction

33
Q

what are the shared clinical features of Nephronophthisis and MCKD?

A
  • Polyuria
  • Polydipsia
  • Salt wasting (sodium in urine)
  • Renal failure
  • No proteinuria/haematuria
  • Shrunken kidneys
34
Q

what are the differences between Nephronophthisis and MCKD?

A

Nephronophthisis - young onset, affects other organs

MCKD - older onset, doesn’t affect other organs

35
Q

what is the cause of Nephronophthisis?

A

autosomal recessive mutation in NPHP1 gene

36
Q

what is the cause of MCKD?

A

autosomal dominant
o Type 1 – MCKD1 = MUC1 gene
o Type 2 – MCKD2 – UMOD

37
Q

how is Nephronophthisis and MCKD diagnosed?

A
  • FH

* Ct scan

38
Q

what is the macroscopic features of Nephronophthisis and MCKD?

A

Shrunken cortex + medulla macroscopically

39
Q

what is the management of Nephronophthisis and MCKD?

A

Transplant

40
Q

what is the cause of medullar sponge kidney?

A

disruption at the uretic bud – metanephric mesenchyme

41
Q

what is the normal development of the mesonephric duct?

A

o Week5 urethritic bud starts to push into the metanephric organs
o Week 7 – nephrogenesis under influence of uretic bud
o Week 20
 uretic bud = ureteric calyces, collecting ducts + collecting tubules
 metanephridia blastema = nephrons

42
Q

what is the underlying mechanism of medullar sponge kidney?

A

• Abnormal induction of metaphoric blastema by ureteric bud – due to either mesonephric duct nor forming properly, uretic bud or both

43
Q

what is the pathophysiology of medullar sponge kidney?

A
  • Dilated collecting ducts, cyst formation around collecting ducts
  • Kidneys can’t reabsorb + secrete –
44
Q

what is the consequence of medullar sponge kidney?

A

raised calcium, phosphate, oxalate – kidney stones

Stones + cysts cause obstruction – stasis – infection and further stones

45
Q

what are the clinical features of medullar sponge kidney?

A
  • Haematuria
  • Renal colic
  • Kidney stones
  • Recurrent UTIs
46
Q

how is medullar sponge kidney diagnosed?

A

excretion urography

47
Q

what is the management of medullar sponge kidney?

A
  • Pain control
  • Potassium citrate
  • Antibiotics for UTI

Renal (7 decks)

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