Brainscape's Knowledge GenomeTM

Browse over 1 million classes created by top students, professors, publishers, and experts.


See full index

The Renal System > Inherited Disorders of the Kidney > Flashcards

Inherited Disorders of the Kidney Flashcards

1
Q

Most commonly, polycystic disease is autosomal ________

A

Most commonly, polycystsic disease is autosomal dominant

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
2
Q

Which gene is most commonly affected to cause autosomal dominant polycystic kidney disease?

A

PKD1 (on chromosome 16) - 85% (most severe)

(PKD2 is second most common found on chromosome 4)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
3
Q

What does polycystic kidney disease involve?

A

Massive cyst enlargement creating large kidneys

Small populations of renal tubules give rise to epithelial lined cysts

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
4
Q

Which type of tumour is commonly associated with polycystic kidney disease?

A

Benign adenomas (25%)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
5
Q

In patients with ADPKD, what is a very common early clinical feature?

A

Hypertension

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
6
Q

Why does hypertension occur with ADPKD?

A

Blood vessels of nephrons become compressed causing reduced perfusion

The RAAS ois activated to raise blood pressure

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
7
Q

What clinical features are associated with ADPKD?

A

Reduced ability to concentrate urine

Renal failure

Chronic pain

Hypertension

Haematuria (due to cyst rupture, cystitis, stones)

Cyst Infection

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
8
Q

Which organ may also decline in functionality along with the kidneys during ADPKD?

A

Liver

(liver cysts can develop after renal cysts (around 10yrs))

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
9
Q

How can the brain be affected in ADPKD?

A

Intracranial aneurysms

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
10
Q

Besides the liver and brain, which other areas of the body exhibit extra-renal manifestations of ADPKD?

A

Valvular disease (mitral/aortic polapse, collagenous/myxomatous degeneration)

Diverticular disease

Abdominal/inguinal hernias

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
11
Q

In which ways can ADPKD be diagnosed?

A

USS (bilateral cysts and renal enlargement)

CT/MRI (when unclear on USS)

Genetic testing

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
12
Q

Generally, ADPKD will appear after what age?

A

20s

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
13
Q

How is ADPKD differentiated from ARPKD in children/early cystic development?

A

USS showing congenital hepatic fibrosis suggests recessive disease

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
14
Q

How is ADPKD managed?

A

Control risk factors

  1. Hypertension must be controlled strictly
  2. Hydration
  3. Proteinuria reduction
  4. Cyst haemorrhage and infection management

Tolvaptan - reduces cyst volume and progression

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
15
Q

When renal failure occurs with ADPKD, what are the management options?

A

Dialysis

Transplantation

Must be aware to manage cardiovascular and cerebrovascular causes of death

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
16
Q

ARPKD tends to present ________

A

ARPKD tends to present early

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
17
Q

What does ARPKD generally present with as well as renal cysts?

A

Hepatic lesions

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
18
Q

Which gene is the cause of ARPKD?

A

PKDH1 (Chromosome 6)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
19
Q

ARPKD is generally _________ and ___________

A

ARPKD is generally symmetrical and bilateral

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
20
Q

Where do the cysts in ARPKD histologically develop from?

A

Collecting duct system

21
Q

In ARPKD the kidneys are _________ palpable

A

In ARPKD the kidneys are always palpable

22
Q

Overall which type of PKD is more severe?

A

ADPKD

23
Q

Which two clinical features are classical of ARPKD?

A

Recurrent UTIs

Hypertension

24
Q

Alport syndrome involves a mutation in which gene?

A

COL4A3, COL4A4, COL4A5 gene

25
Q

What causes the renal problems in Alport syndrome?

A

Disorder of type IV collagen matrix

26
Q

In most cases, how is Alport syndrome inherited?

A

X-linked

(COL4A5 mutation)

27
Q

Which clinical features would causes suspicion of Alport syndrome?

A

Haematuria (gross or unexplained microscopic)

Sensorineural deafness

Ocular defects (anterior lenticonus)

Leiomyomatosis of oesophagus/genitalia (rare)

28
Q

Why does haematuria occur with Alport syndrome?

A

Type IV collagen is missing or dysfunctional

This causes the GBM to become thin and very porous

Red blood cells then pass through causing (normally) microscopic haematuria

29
Q

What is the classical presentation of Alport syndrome on biospy?

A

Thickening of the GBM with splitting of the lamina densa (electron microscopy)

30
Q

Why does proteinuria occur in Alport syndrome and what does it eventually lead to?

A

Thin and porous GMB eventually lets proteins through

Proteinuria increases and along with other factors causes the GBM to undergo sclerosis

31
Q

Which type of hearing loss is associated with Alport syndrome?

A

Conductive

(abnormal type IV collagen may prevent hair cells generating normal nerve signals)

32
Q

What is anterior lenticonus?

A

Central part of the lens bulges into the anterior chamber as it lacks integrity to maintain lens shape

33
Q

What is the management for Alport syndrome?

A

BP management

Transplant/dialysis

34
Q

Which condition is defined as an inborn error of glycosphingolipid metabolism and what is its cause?

A

Anderson Fabrys disease

(deficiency of a-galactosidase A)

35
Q

Which organs are affected in Anderson Fabrys disease?

A
  1. Kidneys
  2. Liver
  3. Lungs
  4. Red blood cells
36
Q

How is Anderson Fabrys disease inherited?

A

X-linked

37
Q

In which ways can Anderson Fabrys disease be diagnosed?

A
  1. Plasma/Leukocyte a-GAL activity
  2. Renal Biopsy
  3. Skin Biopsy
38
Q

What are the clinical features associated with Anderson Fabrys disease?

A
  1. Renal failure
  2. Cutaneous (Angiokeratomas often seen in umbilical region)
  3. Cardiac (cardiomyopathy, valvular disease)
  4. Neurological (stroke, acroparaesthesia)
  5. Psychiatric
39
Q

What is the classical appearance of angiokeratomas?

A

Clusters of dark-red to blue angiokeratomas (telangiectasia) in the umbilical area

40
Q

How can Anderson Fabry disease be treated?

A
  1. Enzyme replacement (Fabryzyme)
  2. Management of complications
41
Q

How is medullary cystic kidney inherited?

A

AD

42
Q

Medullary cystic kidney disease has what pathogenesis?

A

Genetic mutation (AD) causes abnormal renal tubules

Fibrosis and cysts occur as a result

43
Q

Where do cysts occur in medullary cystic kidney disease?

A

Corticomedullary junction/medulla

44
Q

How can medullary cystic kidney disease be diagnosed?

A

CT

45
Q

How is medullary cystic kidney disease treated?

A

Transplant

46
Q

What are the hallmark features of medullary sponge kidney?

A

Development of multiple fluid filled cysts in the medulla of the kidney

(gives sponge appearence)

Dilated collecting ducts

47
Q

What are the complications of medullary sponge kidney?

A

Kidney stones

Metabolic acidosis

UTI (stagnant urine)

48
Q

How is medullary sponge kidney diagnosed?

A

Excretion urography

49
Q

How is medullary sponge kidney treated?

A

Hydration + citrate supplements (prevent stone formation)

Bicarbonate (prevents calcium leaching out of bones)

Antibiotics (in the event of UTIs)

The Renal System (37 decks)

Brainscape helps you reach your goals faster, through stronger study habits.
© 2024 Bold Learning Solutions. Terms and Conditions