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Renal > Inherited renal conditions > Flashcards

Inherited renal conditions Flashcards

1
Q

What are the modes of inheritance of cystic disease?

A 
Autosomal recessive
Autosomal dominant (most common)
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2
Q

What causes 85% of cases of ADPKD?

A

Mutations in PKD gene 1 on chromosome 16

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3
Q

What causes 15% of cases of ADPKD?

A

PKD2 mutations on chromosome 4

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4
Q

What 2 chromosomes are implicated in ADPKD?

A

Chromosome 16 and 4

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5
Q

Which mutation leads to an accelerated ESRD?

A

PKD 1 on chromosome 16

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6
Q

What is ADPKD?

A

Massive cyst enlargement of the kidneys
Epithelial lined cysts from a small population of renal tubules
Benign adenomas 25% of kidneys

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7
Q

What are the renal clinical features of ADPKD?

A 
Reduced urine concentration ability
Chronic pain
Hypertension 
Haematuria 
Cyst infection 
Renal failure - worsening GFR
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8
Q

What are the extra renal clinical features of ADPKD?

A

Hepatic cysts: most common extra renal manifestation
Liver cysts present 10 years after renal cysts
Liver function generally preserved
Can result in SOB, pain, ankle swelling (compression of IVC and ascites
Berry aneurysm resulting in subarachnoid haemorrhage
Cardiac disease: mitral/aortic valve prolapse, valvular disease
Diverticular disease: diverticulitis and colonic perforation
Hernias: increased

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9
Q

How is ADPKD diagnosed?

A

Radiologic: USS (multiple bilateral cysts), renal enlargement, CT/MRI when unclear on USS
Genetic

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10
Q

How is ADPKD managed?

A 
Hypertension - rigorous control
Hydration 
Proteinuria reduction 
Cyst haemorrhage + cyst infection 
Tolvaptan
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11
Q

How is renal failure managed?

A

Dialysis
Transplantation
CV and cerebrovascular causes death

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12
Q

Who is likely to present with ARPDK?

A

Young children - associated with hepatic fibrotic lesions

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13
Q

Describe the pattern of disease in ARPKD?

A

Renal involvement is bilateral and symmetrical
Urinary tract is normal
Histologically cysts are seen appearing from the collecting duct system

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14
Q

What is the clinical presentation of ARPKD?

A 
Depends on renal/ liver lesions
Relevance is distinguishing between severe forms and ones which survive the neonatal period
Kidneys ALWAYS palpable
Hypertx 
Recurrent UTI
Slow decline in GFR
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15
Q

What causes alport’s syndrome?

A

Disorder of type 4 collagen matrix - leads to deficient collagenous matrix

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16
Q

What are the common manifestations of alport?

A 
Haematuria
Proteinuria
Sensorineural deafness
Ocular defects - anterior lens dislocation 
Dysphagia
17
Q

When should you suspect alport’s?

A

Haematuria with hearing loss

18
Q

How is alport’s diagnosed?

A

Renal biopsy - variable thickness GMB is a characteristic feature

19
Q

How is alport’s treated?

A

Aggressive treatment of BP and proteinuria

Dialysis/ transplantation

20
Q

What is anderson fabry’s disease?

A

Inborn error of alpha galactosidase A resulting in an X-linked lysosomal storage disease

21
Q

How is alport’s syndrome inherited?

A

X linked

22
Q

What will anderson fabrys disease affect?

A

Kidneys
Liver
Lungs
Erythrocytes

23
Q

What are the clinical features of anderson fabrys disease?

A 
Renal failure
Cutaneous angiokeratoma (pathognomic) 
Cardiomyopathy, valvular disease
Stroke
Acroparesthesia
Psychiatric
24
Q

How is fabrys disease diagnosed?

A

Plasma/ leukocyte alpha galactosidase activity
Renal biopsy - deposition of lipids in kidney
Skin biopsy

25
Q

How is anderson fabrys disease treated?

A

Monthly infusions of fabryzyme

26
Q

What is medullary cystic kidney disease?

A

Morphologically abnormal renal tubules leading to fibrosis
Normal / small kidneys
Cysts in corticomedullary junction

27
Q

How is medullary cystic disease inherited?

A

AD

28
Q

How is medullary cystic kidney disease diagnosed?

A

Family history
CT scan
Average presentation is mid 20s

29
Q

How is medullary cystic kidney disease treated?

A

Transplant

30
Q

What is medullary sponge kidney disease?

A

Dilation of collecting ducts

Cysts have calculi

31
Q

How is medullary sponge kidney disease diagnosed?

A

Excretion urography to demarcate calculi

32
Q

How is medullary sponge kidney inherited?

A

Sporadic

Renal (22 decks)

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