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Inherited disorders of the kidneys Flashcards

1
Q

What are some types of inherited kidney disorders?

A

Cystic diseases
Familial glomerular syndromes
Inherited metabolic disease

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2
Q

What are some forms of inherited cystic diseases of the kidneys?

A
  • Polycystic kidney disease
  • Nephronophthisis
  • Autosomal recessive PKD
  • Medullary sponge kidney
  • Tuberous sclerosis complex
  • Von Hippel Lindau
  • Simple cysts
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3
Q

What are some familial glomerular syndromes?

A
  • Alports syndrome
  • Fabrys disease
  • Nail patella syndrome
  • Congenital nephrotic syndrome
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4
Q

What are some inherited metabolic diseases affecting the kidneys?

A
  • Cystinosis
  • Hyperoxaluria
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5
Q

What are the 2 types of polycystic kidney disease?

A

Autosomal dominant PKD
Autosomal recessive PKD

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6
Q

What is the most frequent life-threatening hereditary kidney disease?

A

Autosomal dominant PKD

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7
Q

Describe the genetics of ADPKD

A

In 85% of cases, it is caused by mutations of PKD1 gene, located on chromosome 16

In 15% of cases, it is caused by mutations of PKD2 gene, located on chromosome 4

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8
Q

How does the gene involved in ADPKD affect prognosis?

A

Both have prognostic implications, with PKD1 patients developing end-stage kidney failure at an earlier stage

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9
Q

Describe the pathophysiology of ADPKD

A

This will result in the formation of epithelial lined cysts arising from a small population of renal tubules

In some cases, these cysts may enlarge and cause kidney enlargement

In some cases, benign adenomas may form, which need to be monitored for malignant transformtion

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10
Q

What are some renal symptoms of ADPKD?

A
  • Reduced urine concentration ability
  • Chronic pain
  • Hypertension
  • Haematuria - Cyst rupture, cystitis, stones
  • Cyst infection
  • Renal failure
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11
Q

What are some extra-renal features of ADPKD?

A

Hepatic cysts
Intra-cranial aneurysms
Cardiac disease
Diverticular disease
Hernias

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12
Q

Describe the characteristics of hepatic cysts in ADPKD?

A
  • Most common extra-renal manifestation
  • Presents around 10 years after renal cysts
  • Liver function usually preserved
  • Can result in SOB, pain and ankle swelling
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13
Q

Describe the characteristics of intracranial aneurysms in ADPKD?

A
  • Seen in 4-8% of patients
  • Seen in clusters of family members
  • Mainly seen in the anterior circulation territory
  • Screening indicated in those with a family history
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14
Q

Describe the characteristics of cardiac disease in ADPKD?

A

Mitral/aortic valve prolapse - Collagenous/myxomatous degeneration

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15
Q

Describe the characteristics of diverticular disease in ADPKD?

A
  • Increased prevalence and complications in those on dialysis
  • Diverticulitis and colonic perforation are 2 serious complications
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16
Q

What investigations are required in ADPKD?

A

USS - Multiple bilateral cysts and enlargement
CT/MRI if unclear on USS
Mutation analysis

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17
Q

What is shown?

A

Polycystic kidney disease

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18
Q

How does ADPKD present in children?

A
  • Utero or 1st year
  • Similar renal involvement
  • Cerebral aneurysms are rare
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19
Q

How can ADPKD and ARPKD be distinguished in children?

A

Congenital hepatic fibrosis on USS suggests recessive disease

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20
Q

What is the risk of a ADPKD patient’s child having the disease?

A

50%

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21
Q

How is ADPKD managed?

A

Hypertension control
Hydration
Cyst haemorrhage and infection monitoring
Tolvaptan
Renal failure management

22
Q

What is Tolvaptan in ADPKD management?

A

An ADH receptor antagonist used to reduce cyst volume and progression by slowing loss of kidney function

23
Q

Describe the genetics of autosomal recessive PKD

A

It has been linked to mutations of the PKDH1 gene on chromosome 6

24
Q

Describe the pathophysiology of ARPKD

A

Renal involvement is usually bilateral and symmetrical

The urinary tract is generally normal

25
Q
A
26
Q

Describe the histology of ARPKD

A

Histologically, the cysts are seen appearing from the collecting duct system, with 30-90% of ducts showing involvement

27
Q

What are some clinical features of ARPKD?

A
  • Palpable kidneys
  • Hypertension
  • Recurrent UTIs
  • Slow decline in GFR
28
Q

What is the prognosis of ARPKD?

A

30-50% of children with ARPKD are severely affected

Infants who survive the neonatal period have a mortality rate of 9-24% in the first year of life

Children who survive the first year of life have a relatively good prognosis with a survival probability of 80% beyond 15 years

29
Q

Describe the genetics and pathophysiology of Alport’s syndrome

A

This is an X-linked conditions (In 85% of cases), with a mutation in the COL4A5 gene, which leads to a deficient collagenous matrix deposition due to disorder of type IV collagen

30
Q

How does Alpert’s syndrome present renally?

A
  • Haematuria
  • Proteinuria - Seen later and shows bad prognosis
31
Q

What are some extra-renal symptoms of Alpert’s syndrome?

A
  • Sensorineural deafness
  • Occular defects - Anterior lenticonus
  • Leiomyomatosis of oesophagus and genitalia - Rare
32
Q

What should be suspected here:

microscopic haematuria +/- hearing loss

A

Alport’s syndrome

33
Q

What investigations are required in Alport’s syndrome?

A

Renal biopsy

34
Q

What will be seen on renal biopsy in Alport’s syndrome

A

Renal biopsy will show variable thickness of the GBM

35
Q

How is Alport’s syndrome managed?

A

There is no specific treatment

There is standard aggressive BP and proteinuria management

Dialysis and transplantation may be required

36
Q

Describe the genetics and pathophysiology of Anderson-Fabry’s disease

A

This is an X-linked lysosomal storage disease caused by an inborn error of glycosphingolipid metabolism, causing a deficiency of a-galactosidase A)

This affects the kidneys, liver, lungs and erythrocytes

37
Q

What are some cutaneous symptoms of Anderson-Fabry’s disease

A

Angiokeratomas

38
Q

What are some cardiac symptoms of Anderson-Fabry’s disease

A

Cardiomyopathy
Valvular disease

39
Q

What are some neurological symptoms of Anderson-Fabry’s disease?

A

Stroke
Acroparaesthesia

40
Q

What are some renal features of Anderson-Fabry’s disease

A

Renal failure

41
Q

How is Anderson-Fabry’s disease diagnosed?

A
  • Blood tests showing low a-GAL activity in plasma/leukocytes
  • Renal biopsy
  • Skin biopsy
42
Q

How is Anderson-Fabry’s disease managed?

A
  • Enzyme replacement - Fabryzyme
  • Management of complications
43
Q

What is medullary cystic kidney disease?

A

This is a rare, autosomal dominant inherited cystic disease

44
Q

Describe the histology of medullary cystic kidney disease

A

Morphology shows abnormal renal tubules leading to fibrosis

The affected kidneys will be either normal sized or smaller

Cysts are found in the corticomedullary junction or the medulla

45
Q

How is medullary cystic kidney disease diagnosed?

A

Family history
CT scan

46
Q

When does medullary cystic kidney disease usually present

A

Average age of 28 years old

47
Q

What is the management option for medullary cystic kidney disease

A

Renal transplant

48
Q

What is medullary sponge kidney?

A

An uncommon, sporadic condition in which there is dilatation of the collecting duct with possible cyst formation

49
Q

Describe the histology of medullary sponge kidney

A

In severe cases, the medullary area will look like a sponge
Cysts will often have calculi

50
Q

How is medullary sponge kidney diagnosed?

A

excretion urography to demarcate the calculi

51
Q
A

Renal (41 decks)

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