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Renal > Inherited Renal Disorders > Flashcards

Inherited Renal Disorders Flashcards

1
Q

What are the two forms of polycystic disease?

A

Autosomal recessive or dominant (common)

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2
Q

What is the aetiology of autosomal dominant polycystic kidney disease?

A

Most frequent life threatening hereditary disease

Important cause of ESRD = 8-10% of ESRD in Europe and Australia

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3
Q

What are the mutations implicated in autosomal dominant PKD?

A

PKD1 (85%) and PKD2 (15%)

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4
Q

What are some features of the PKD1 mutation in autosomal dominant PKD?

A

Located on chromosome 16, patients develop end stage kidney failure at an earlier stage than PKD2 patients

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5
Q

Where is the PKD2 mutation of autosomal dominant PKD located?

A

Located on chromosome 14

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6
Q

What is the histological appearance of autosomal dominant PKD?

A

Massive cyst enlargement = large kidneys
Epithelial lined cysts arise from a small population of renal tubules
Benign adenomas occur in 25%

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7
Q

What are the renal features of autosomal dominant PKD?

A

Reduced urine concentrating ability
Chronic pain and renal failure
Haematuria = cyst rupture, cystitis, stones
Cyst infection
Hypertension = common, mean age of onset is 31

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8
Q

What is the most common extra-renal manifestation of autosomal dominant PKD?

A

Hepatic cysts = present 10 years after renal cysts, liver function generally preserved

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9
Q

What may hepatic cysts associated with autosomal dominant PKD cause?

A

SOB, pain and ankle oedema

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10
Q

What are some extra-renal manifestations of autosomal dominant PKD?

A

Hepatic cysts, intra-cranial aneurysms, cardiac disease, diverticular disease, hernias

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11
Q

What are some features of the intra-cranial aneurysms associated with autosomal dominant PKD?

A

4-8% of patients, seen in clusters in families, mainly in the anterior circulation territory, screening indicated if positive family history

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12
Q

What cardiac diseases are associated with autosomal dominant PKD?

A

Mitral or aortic valve prolapse

Valvular disease = collagenous/myxomatous degeneration

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13
Q

What are the features of diverticular disease associated with autosomal dominant PKD?

A

Increased prevalence and incidence of complications, usually patients on dialysis, may have diverticulitis or colonic perforation

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14
Q

How common are hernias in patients with autosomal dominant PKD?

A

45% of patients have inguinal hernias

Also increased incidence of abdominal hernias

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15
Q

What is the radiological diagnosis of autosomal dominant PKD?

A

US sounds shows prevalence of multiple bilateral cysts and renal enlargement, CT/MRI used if US unclear

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16
Q

How is genetic diagnosis used in autosomal dominant PKD?

A

Linkage analysis and mutation analysis

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17
Q

How does autosomal dominant PKD present in children?

A

Early onset = can be in utero or first year of life

Siblings are at increased risk of early disease

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18
Q

How are children affected by autosomal dominant PKD?

A

Renal involvement similar to adults but cerebral aneurysms are rare
Single cyst in high risk patient is enough for diagnosis

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19
Q

How can autosomal dominant PKD in children be differentiated from autosomal recessive PCK?

A

Using US = presence of congenital hepatic fibrosis is suggestive of recessive disease

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20
Q

What is the chance of the children of someone with autosomal dominant PKD developing the disease?

A

50%

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21
Q

When should genetic counselling be offered to patient with autosomal dominant PKD?

A

Both pre and post-testing is required in any patient at risk and who are planning to undergo diagnostic testing

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22
Q

What is the management of autosomal dominant PKD?

A

Rigorous hypertension control, hydration, proteinuria reduction, cyst haemorrhage or infection control, dialysis or transplant if renal failure

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23
Q

What new drug can be used to treat autosomal dominant PKD?

A

Tolvaptan = reduces cyst volume and progression

24
Q

Who is primarily affected by autosomal recessive PKD?

A

Young children = commonly associated with hepatic lesions

25
Q

What mutation causes autosomal recessive PKD?

A

Mutation in PKDH1 on chromosome 6

26
Q

How are the kidneys involved in autosomal recessive PKD?

A

Bilateral and symmetrical renal involvement

Urinary tract usually normal

27
Q

What is the histological appearance of autosomal recessive PKD?

A

Cysts are seen appearing from the collecting duct system = 30-90% of ducts involved depending on severity

28
Q

What does the presentation of autosomal recessive PKD depend on?

A

Depends on renal/liver lesions

Must distinguish between severe forms and ones which survive the neonatal period

29
Q

How does autosomal recessive PKD present?

A

Kidneys always palpable, hypertension, recurrent UTIs, slow decline in GFR (<1/3 reach dialysis)

30
Q

What is the prognosis of autosomal recessive PKD?

A

30-50% are severely affected

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

31
Q

Does the prognosis of autosomal recessive PKD improve after the first year of life?

A

Yes = survival of 80% beyond 15 years

32
Q

What is Alports syndrome also known as?

A

Hereditary nephritis

33
Q

How common is Alports syndrome?

A

1-2% of patients with end stage renal disease

34
Q

What is Alports syndrome?

A

Disorder of type 4 collagen matrix = mutation in COL4A5 gene leads to deficient collagenous matrix

35
Q

What is the inheritance of Alports syndrome?

A

X-linked inheritance in 85%

36
Q

What is the characteristic feature of Alports syndrome?

A

Haematuria

37
Q

What does proteinuria in Alports syndrome mean for prognosis?

A

Confers poor prognosis

38
Q

What are the extra-renal manifestations of Alports syndrome?

A

Sensorineural deafness, ocular defects (anterior lenticonus), leiomyomatosis of oesophagus/genitalia (rare)

39
Q

How does Alports syndrome appear on biopsy?

A

Variable thickness of GBM = characteristic feature

40
Q

When should you suspect Alports syndrome?

A

In a patient with haematuria and hearing loss

41
Q

How is Alports syndrome treated?

A

Non-specific = standard aggressive treatment of BP and proteinuria, dialysis or transplantation

42
Q

What causes Anderson-Fabrys disease?

A

Inborn error of glycosphingolipid metabolism = deficiency of a-galactosidase A

43
Q

What is Anderson-Fabrys disease?

A

X-linked lysosomal storage disease = rare

44
Q

What is affected by Anderson-Fabrys disease?

A

Kidneys, liver, lungs, erythrocytes

45
Q

What are the features of Anderson-Fabrys disease?

A

Renal failure, angiokeratomas, cardiomyopathy, valvular disease, stroke, acroparaesthesia, psychiatric

46
Q

How is Anderson-Fabrys disease diagnosed?

A

Plasma/leukocyte a-GAL activity

Renal and skin biopsy = concentric lamellar inclusions with lymphocytes

47
Q

How is Anderson-Fabrys disease treated?

A

Fabryzyme enzyme replacement

Management of complications

48
Q

What is a medullary cystic kidney?

A

Rare inherited cystic disease = autosomal dominant

49
Q

What are the features of a medullary cystic kidney?

A

Morphologically abnormal renal tubules leading to fibrosis, normal/small kidneys, cortex and medulla both shrunken

50
Q

Where are cysts present in a medullary cystic kidney?

A

In the corticomedullary junction or medulla = not essential for diagnosis

51
Q

How is a medullary cystic kidney diagnosed?

A

Family history and CT scan

52
Q

What age do medullary cystic kidneys present at?

A

Presents on average at age 28

53
Q

How is a medullary cystic kidney treated?

A

Renal transplant is treatment of choice

54
Q

What are some features of a medullary sponge kidney?

A

Uncommon with sporadic inheritance

Renal failure unusual

55
Q

What renal changes occur in a medullary sponge kidney?

A

Dilation of collecting ducts
Cysts have calculi
Medullary area appears like sponge in severe cases

56
Q

How is a medullary sponge kidney diagnosed?

A

Excretion urography = to demarcate calculi

Renal (36 decks)

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