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Week 12 - Nephrology and urology > Genetic kidney disease > Flashcards

Genetic kidney disease Flashcards

1
Q

What is a cyst?

A

A sac like structure containing fluid

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2
Q

Where do cysts in the kidney arise from?

A

Renal tubules

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3
Q

how do cysts in the kidneys cause problems?

A
  • compressing other structures
  • Replacing useful tissue
  • Bleeding
  • Pain
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4
Q

What is the most common inherited kidney disorder?

A

Autosomal dominant/adult polycystic kidney disease

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5
Q

What are the gene mutations underlying PKD and what is the distribution of the mutations?

A
  • PKD 1: 85%

* PKD 2: 15%

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6
Q

What are polycystins?

A
  • Located in renal tubular epithelia and in the liver and pancreas ducts
  • They are membrane proteins involved in intracellular calcium regulation
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7
Q

What are the renal complications of ADPKD?

A
  • 50% risk of ESRD by age 50 (PKD 1 tends to have a more severe phenotype than PKD 2)
  • Cyst accidents: haemorrhage, infection, rupture
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8
Q

What are the non renal complications of ADPKD?

A
  • Hypertension
  • Intracranial aneurysm
  • Mitral valve prolapse
  • Aortic incompetence
  • Colonic diverticular disease
  • Liver/pancreas cysts
  • Hernia
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9
Q

Describe the natural history of adult PKD

A
  • Age 20-30 cysts become visible
  • Age 30-40 kidney size increases and eGFR begins to fall
  • Age 40-70 end stage kidney disease develops (PKD2 slightly later than PKD1)
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10
Q

Explain the diagnosis of ADPKD

A

•Ultrasound: ADPKD is associated with cysts at an early age, diagnose if there is a family history and:
- 2+ cysts age 15-30
- 2+ cysts in each kidney 30-59
- 4+ cysts in each kidney age 60+
- if no family history then 10 or more cysts in both kidneys, renal enlargement or liver cysts
•CT or MRI are more sensitive

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11
Q

What is the screening programme for ADPKD?

A
  • If suspected/family history
  • Ultrasound at age 21
  • If negative should be repeated at age 30
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12
Q

What is the management of ADPKD?

A

•Supportive
•Blood pressure lowering
•Cysts events managed appropriately:
- infection : antibiotics and drainage if required
- haemorrhage: analgesia, transfusion
•Management of extra-renal associations
•kidney replacement therapy for ESKD
•Tolvaptan: vasopressin V2 receptor antagonist

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13
Q

What are the side effects of tolvaptan?

A
  • Liver toxicity

* Polyuria

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14
Q

What is Von Hippel Lindau?

A 
•Autosomal dominant cystic kidney disease
•Multiple benign and malignant tumours 
 - renal cell carcinoma 
 - benign tumours in pancreas
 - pheochromocytoma
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15
Q

What is tuberous sclerosis?

A
  • Autosomal dominant cystic kidney disease
  • Multiple benign tumours in brain, eyes, kidney, heart and skin
  • Associated with epilepsy and learning difficulties
  • Kidney cysts and angiolyomyolipoma (renal tumour)
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16
Q

What is autosomal recessive polycystic kidney disease?

A
  • Manifests in early childhood

* Hepatic fibrosis and liver failure and renal failure

17
Q

What is medullary cystic kidney disease

A
  • Autosomal dominant
  • Can have normal kidney function
  • Small to normal size kidneys
  • Can be associated with gout
18
Q

What is Alport’s syndrome?

A
  • X linked inherited kidney disorder
  • Alpha 3, 4 or 5 gene mutation
  • Deafness and renal failure
  • 90% on dialysis or transplant by 40, 50% by 25
  • Sensorineural hearing loss late childhood
  • Impaired assembly of collagen
19
Q

Describe Alport’s syndrome on EM

A

Abnormally split and laminated glomerular basement membrane

20
Q

What are the clinical signs of Alport’s syndrome?

A

•Microscopic haematuria, proteinuria and end stage renal failure

21
Q

What is Fabry’s disease?

A
  • X linked storage disorder
  • Alpha galactosidase A deficiency resulting in accumulation of globotriaosylceramide (Gb3)
  • GB3 accumulates in the glomeruli, particularly podocytes causing proteinuria and ESRF
  • Also causes neuropathy, cardiac and skin features
22
Q

How do you diagnose Fabry’s disease?

A
  • Measure alpha gal A activity in leukocytes

* Renal biopsy- inclusion bodies of G3b

23
Q

What is the management of Fabry’s disease?

A

Enzyme replacement therapy

Week 12 - Nephrology and urology (14 decks)

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