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renal > inherited disorders of the kidney > Flashcards

inherited disorders of the kidney Flashcards

1
Q

what is the most frequent life threatening hereditary kidney disease?

A

autosomal dominant polycystic disease

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2
Q

what causes autosomal dominant polycystic disease?

A

Autosomal dominant

Mutations in PKD gene 1 located in chromosome 16 (85%)

Mutations in PKD gene 2 located in chromosome 4 (15%)

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3
Q

what is the pathology of ADPKD?

A
  • massive cyst enlargement large kidneys
  • epithelial lined cysts arise from a small population of renal tubules
  • benign adenomas (25% of kidneys)
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4
Q

what investigations are done for ADPKD?

A

Radiological:

  • USS multiple bilateral cysts
  • renal enlargement
  • CT/MRI when unclear on USS

Genetic

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5
Q

how does ADPKD present?

A

massive cyst enlargement large kidneys

  • epithelial lined cysts arise from a small population of renal tubules
  • benign adenomas (25% of kidneys)
  • Reduced urine concentration ability
  • Chronic pain
  • hypertension
  • haematuria
  • cyst infection
  • Renal Failure
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6
Q

what is the management for ADPKD?

A

Hypertension-rigorous control
Hydration
Proteinuria reduction
Cyst Haemorrhage + cyst infection

Tovaptan (ADH receptor antagonist used to reduce cyst volume and progression)

Renal failure:

  • dialysis
  • transplantation
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7
Q

is ADPKD or ARPKD more common?

A

ADPKD

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8
Q

who is ARPKD more common in?

A

children

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9
Q

how does ARPKD present?

A
  • renal involvement is bilateral and symmetrical
  • urinary tract is normal
  • histologically cysts are seen appearing from the collecting ducts

Clinical presentation varies and depends on the renal/liver lesions

Kidneys always palpable
Hypertension
Recurrent UTI
Slow decline in GFR (less than 1/3 reach dyalisis)

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10
Q

what is acquired cystic disease?

A

Developmental parapelvic cysts that develop with age

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11
Q

what is Alports syndrome?

A

-a disorder of type IV collagen matrix

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12
Q

what causes Alports syndrome?

A
  • X linked inheritance

- mutation in COL4A5 gene leads to deficient collagenous matrix deposition

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13
Q

how does alports present?

A
  • haematuria
  • proteinuria (seen later is bad prognosis)

Extra renal:

  • sensorineural deafness
  • ocular defects (anterior lenticonus)
  • leiomyomatosis of oesophagus/genetilia
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14
Q

how is alports diagnosed?

A

Diagnoses:
-suspect in patients with microscopic haematuria +/- hearing loss

Renal biopsy:
-variable thickness GBM (with splitting of the lamina densa which can be seen on electron microscopy)

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15
Q

what is the treatment for Alports?

A

No specific treatment!

  • standard aggressive treatment of BP and proteinuria
  • dialysis/ transplantation
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16
Q

what causes Anderson Fabry’s disease?

A
  • X linked disease lysosomal storage disease

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

17
Q

How does Anderson Fabry’s disease present?

A

Renal failure

Cutaneous- angiokeratomas

Cardiac- cardiomyopathy, valvular disease

Neuro-stroke, acroparaesthesia

Psychiatric

18
Q

How is Fabrys disease diagnosed?

A

Diagnoses:

  • Plasma/ Leukocyte a-GAL activity
  • Renal biopsy
  • Skin biopsy
19
Q

what is the treatment for Fabrys?

A

Enzyme replacement- Fabryzyme

Manage complications

20
Q

what is Medullary cystic kidney disease?

A

Rare inherited autosomal dominant cystic disease causing morphologically abnormal renal tubules leading to fibrosis

21
Q

where are cysts found in medullary cystic disease?

A

-corticomedullary junction

22
Q

what size are the kidneys in medullary cystic kidney disease?

A

-normal/ small in size

23
Q

how is medullary cystic kidney disease diagnosed?

A
  • FH

- CT scan

24
Q

what is the treatment for medullary cystic kidney disease?

A

renal transplant

25
Q

How does medullary Sponge kidney disease present?

A
  • dilatation of the kidney ducts and in severe cases medullary area appears like a sponge
  • cysts tend to have calculi
26
Q

how is medullary sponge kidney disease diagnosed?

A

-excretion urography is done to demarcate calculi

renal (37 decks)

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