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Renal week 4 > Inherited disorders of the kidneys > Flashcards

Inherited disorders of the kidneys Flashcards

1
Q

What is the most common hereditary cause of end stage renal failure ?

A

Autosomal dominant polycystic kidney disease

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2
Q

What are the mutations which cause autosomal dominant polycystic kidney disease ?

A
  • PKD 1 on chromosome 16 - seen in 85% of cases
  • PKD 2 on chromosome 4 - seen in 15% of cases
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3
Q

What is the appearance of the kidneys in autosomal dominant polycystic kidney disease(ADPKD) ?

A

Massive renal enlargement with cysts

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4
Q

What are the renal signs of AKPKD?

A
  • Abdominal pain
  • Haematuria
  • Increased BP
  • Renal calculi
  • Cyst infection
  • Progressive renal failure
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5
Q

What are the extra-renal features of ADPKD?

A
  • Liver cysts
  • Intra-cranial aneurysms ==> subarachnoid haemorrhage
  • Mitral valve prolapse
  • Ovarian cysts
  • Diverticular disease - diverticulitis
  • Hernias
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6
Q

How is ADPKD diagnosed ?

A
  • 1st line = US
  • 2nd line = abdominal CT/MRI if US unclear
  • 3rd line = if imaging studies inconclusive then do genetic testing for PKD1 or PKD2 mutation
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7
Q

What is the management of PKD ?

A
  • žHydration
  • žProteinuria reduction
  • žCyst Haemorrhage+ Cyst Infection
  • žNew treatment –to reduce cyst volume and progression – Tolvaptan
  • žRenal Failure - management of CKD
  • Pain may be helped by laproscopic cyst removal or nephrectomy
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8
Q

What genetic mutation causes autosomal recessive polycystic kidney disease ?

A

žPKDH1 on chromosome 6

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9
Q

Histologically where do the cysts appear from in ARPKD ?

A

Appear from the collecting duct system

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10
Q

What is the typical presentation of ARPKD ?

A

Infant with multiple renal cysts and congenital hepatic fibrosis

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11
Q

What is the prognosis for ARPKD ?

A
  • žInfants who survive the neonatal period have a mortality rate of 9% to 24% in the first year of life
  • žChildren who survive the first year of life have a relatively good prognosis, with a survival probability of 80% beyond 15 years
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12
Q

What is the treatment for ARPKD ?

A

No specific therapy

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13
Q

What is the genetic mutation causing alports syndrome ?

A

Mutation COL4A5 gene

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14
Q

Due to the genetic mutation causing alports syndrome what defect does this result in ?

A

Results in disorder of type IV collagen - resulting in an abnormal glomerular-basement membrane (GBM).

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15
Q

What is the mode of inheritance of alports syndrome ?

A

X-linked

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16
Q

What are the signs of alports syndrome ?

A
  • Microscopic haematuria - this is key
  • Proteinuria - seen a bit later on
  • Progressive renal insufficiency (CKD)
  • Bilateral sensorineural deafness
  • Ocular manifestations - retinitis pigmentosa, lenticonus
17
Q

What are the 2 key signs which would make you suspect alports syndrome ?

A

Haematuria and hearing loss

18
Q

How is alports syndrome diagnosed and what is seen ?

A

Renal biopsy - shows thickening of the glomerular basement membrane (GBM) with splitting

19
Q

What is the treatment of alports syndrome ?

A
  • No specific treatment
  • Treat the CKD it causes as normal
20
Q

What is anderson fabrys disease?

A

X-lined lysosome storage disorder caused by mutations in the GLA gene

21
Q

What are people with anderson fabrys disease deficient in ?

A

a-galactosidase A

22
Q

What are the features of anderson fabrys disease ?

A
  • Renal failure
  • Cutaneous-Angiokeratomas
  • Cardiac-cardiomyopathy, valvular disease
  • Neurological- stroke,acroparaesthesia
  • Psychiatric
23
Q

How is anderson fabrys disease diagnosed ?

A
  • Plasma /Leukocyte a-GAL activity
  • Renal Biopsy
  • Skin Biopsy
24
Q

What is the treatment of anderson fabrys disease ?

A
  • Enzyme replacement- (alpha or beta agalsidase) Fabryzyme
  • Management of Complications - e.g. CKD treatment
25
Q

What is medullary cystic kidney disease

A

žRare inherited cystic disease- Autosomal Dominant inheritance

26
Q

What is the appearance of medullary cystic kidney disease ?

A
  • Shruken kidneys (cortex and medulla both shrunken)
  • Cysts restricted to the medulla
  • žAbnormal renal tubules leading to fibrosis
27
Q

How is medullary cystic kidney disease diagnosed ?

A

Family history and CT scan

ž

28
Q

What is the treatment for medullary cystic kidney disease ?

A

Renal Transplantation

Renal week 4 (9 decks)

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