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Renal > Inherited Disorders > Flashcards

Inherited Disorders Flashcards

1
Q

What is the most common life threatening hereditary disease?

A

Autosomal dominant polycystic disease

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2
Q

What mutations lead to ADPKD?

A

PKD1 (membrane receptor)
PKD2 (calcium channel)
Code for polycystin proteins which form a complex together

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3
Q

Name a substance that influences proliferation of epithelial cells

A

EGF

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4
Q

Where in the kidney is affected by ADPKD?

A

Tubules

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5
Q

What are the renal clinical features of ADPKD?

A
  • decreased urine concentration
  • chronic pain
  • hypertension
  • haematuria
  • cyst infection
  • renal failure
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6
Q

State some extra-renal features of ADPKD

A 
Hepatic cysts - 10 years post renal cyst 
Intra-cranial aneurysm 
Cardiac disease (valvular disease)
Diverticular Disease 
Hernias (abdominal and inguinal)
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7
Q

What is special about intracranial abscesses?

A

They run in families - are very rare and if present in a family screening measures are put in place

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8
Q

How is ADPKD diagnosed?

A

Radiologically - Ultrasound, CT, MRI (multiple bilateral cysts and renal enlargement)
Genetics - linkage and mutation analysis

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9
Q

If a parent has ADPKD what is the chance that the child has it?

A

50%

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10
Q

How is ADPKD managed?

A

Control hypertension
Hydration and proteinuria reduction
Cyst haemorrhage and infection control

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11
Q

What drug has been licenced for ADPKD recently?

A

Tolvapton - reduces cyst volume and progression

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12
Q

How can ADPKD and ARPKD be differentiated?

A

ARPKD has a stronger association with hepatic lesions, cysts appear from the collecting duct

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13
Q

What is the presentation of ARPKD?

A

Palpable kidneys, hypertension, recurrent UTIs, slow decline in GFR

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14
Q

How is Alports Syndrome inherited?

A

X linked

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15
Q

What is Alports syndrome?

A

Disorder in type IV collagen which leads to deficient collagenous matrix

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16
Q

What is the characteristic feature of alports?

A

Haematuria

17
Q

State the extra-renal symptoms of alports

A
  • sensorineural deafness
  • ocular defects
  • leiomyomatosis (oesophagus and genitalia)
18
Q

What will renal biopsy of alports show?

A

Thickening of GBM

19
Q

How is alports managed?

A

No specific treatment - treat BP/proteinuria may require dialysis or transplantation

20
Q

What is Anderson Fabrys Disease?

A

Inborn erro in glycosphingolipid metabolism - X lined lysosomal storage disease

21
Q

Where in the body does Anderson fabrys disease affect?

A
  • kidneys
  • liver
  • lungs
  • erythrocytes
22
Q

What are the clinical features of Anderson fabrys disease?

A
  • Renal failure
  • Angiokeratomas
  • Valve disease
  • Stroke/acroparesthesia
  • Psychiatric problems
23
Q

What will biopsy of Anderson Fabrys disease show?

A

Lamellar inclusions in lysosomes

24
Q

Other than biopsy what other investigations can be done on a patient with suspected Anderson Fabrys disease?

A

Skin biopsy, plasma/leukocyte aGAL activity

25
Q

How is Anderson Fabrys Disease treated?

A

Replace fabryzyme and manage complications

26
Q

Describe medullary cystic kidney

A

Rare autosomal dominant disease which leads to abnormal tubules and fibrosis

27
Q

Where are the cysts in medullary cystic disease?

A

Corticomedullary junction and medulla

28
Q

How is medullary cystic kidney diagnosed?

A

family history, CT, usually around 28 years old

29
Q

What is the treatment for a medullary cystic kidney?

A

Transplantation

30
Q

Describe medullary sponge kidney

A

Uncommon, sporadic inheritance leads to dilatation of collecting ducts

31
Q

Why is medullary sponge kidney called that?

A

Sponge like appearance in severe disease

32
Q

How is medullary sponge kidney diagnosed?

A

Excretion Urography - demarcates the calculi present in cysts

Renal (20 decks)

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