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The Renal System > Inherited Disorders of the Kidney > Flashcards

Inherited Disorders of the Kidney Flashcards

(49 cards)

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1
Q

Most commonly, polycystic disease is autosomal ________

A

Most commonly, polycystsic disease is autosomal dominant

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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)

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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

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4
Q

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

A

Benign adenomas (25%)

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5
Q

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

A

Hypertension

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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

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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

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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))

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9
Q

How can the brain be affected in ADPKD?

A

Intracranial aneurysms

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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

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11
Q

In which ways can ADPKD be diagnosed?

A

USS (bilateral cysts and renal enlargement)

CT/MRI (when unclear on USS)

Genetic testing

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12
Q

Generally, ADPKD will appear after what age?

A

20s

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13
Q

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

A

USS showing congenital hepatic fibrosis suggests recessive disease

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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

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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

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16
Q

ARPKD tends to present ________

A

ARPKD tends to present early

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17
Q

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

A

Hepatic lesions

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18
Q

Which gene is the cause of ARPKD?

A

PKDH1 (Chromosome 6)

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19
Q

ARPKD is generally _________ and ___________

A

ARPKD is generally symmetrical and bilateral

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20
Q

Where do the cysts in ARPKD histologically develop from?

Study These Flashcards
A

Collecting duct system

21
Q

In ARPKD the kidneys are _________ palpable

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A

In ARPKD the kidneys are always palpable

22
Q

Overall which type of PKD is more severe?

23
Q

Which two clinical features are classical of ARPKD?

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A

Recurrent UTIs

Hypertension

24
Q

Alport syndrome involves a mutation in which gene?

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A

COL4A3, COL4A4, COL4A5 gene

25
What causes the renal problems in Alport syndrome?
Disorder of type IV collagen matrix
26
In most cases, how is Alport syndrome inherited?
X-linked | (COL4A5 mutation)
27
Which clinical features would causes suspicion of Alport syndrome?
**Haematuria (gross or unexplained microscopic)** **Sensorineural deafness** Ocular defects (anterior lenticonus) Leiomyomatosis of oesophagus/genitalia (rare)
28
Why does haematuria occur with Alport syndrome?
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
What is the classical presentation of Alport syndrome on biospy?
Thickening of the GBM with splitting of the lamina densa (electron microscopy)
30
Why does proteinuria occur in Alport syndrome and what does it eventually lead to?
Thin and porous GMB eventually lets proteins through Proteinuria increases and along with other factors causes the GBM to undergo sclerosis
31
Which type of hearing loss is associated with Alport syndrome?
Conductive (abnormal type IV collagen may prevent hair cells generating normal nerve signals)
32
What is anterior lenticonus?
Central part of the lens bulges into the anterior chamber as it lacks integrity to maintain lens shape
33
What is the management for Alport syndrome?
BP management Transplant/dialysis
34
Which condition is defined as an inborn error of glycosphingolipid metabolism and what is its cause?
Anderson Fabrys disease | (deficiency of a-galactosidase A)
35
Which organs are affected in Anderson Fabrys disease?
1. Kidneys 2. Liver 3. Lungs 4. Red blood cells
36
How is Anderson Fabrys disease inherited?
X-linked
37
In which ways can Anderson Fabrys disease be diagnosed?
1. Plasma/Leukocyte a-GAL activity 2. Renal Biopsy 3. Skin Biopsy
38
What are the clinical features associated with Anderson Fabrys disease?
1. Renal failure 2. Cutaneous (Angiokeratomas often seen in umbilical region) 3. Cardiac (cardiomyopathy, valvular disease) 4. Neurological (stroke, acroparaesthesia) 5. Psychiatric
39
What is the classical appearance of angiokeratomas?
Clusters of dark-red to blue angiokeratomas (telangiectasia) in the umbilical area
40
How can Anderson Fabry disease be treated?
1. Enzyme replacement (Fabryzyme) 2. Management of complications
41
How is medullary cystic kidney inherited?
AD
42
Medullary cystic kidney disease has what pathogenesis?
Genetic mutation (AD) causes abnormal renal tubules Fibrosis and cysts occur as a result
43
Where do cysts occur in medullary cystic kidney disease?
Corticomedullary junction/medulla
44
How can medullary cystic kidney disease be diagnosed?
CT
45
How is medullary cystic kidney disease treated?
Transplant
46
What are the hallmark features of medullary sponge kidney?
Development of multiple fluid filled cysts in the medulla of the kidney (gives sponge appearence) Dilated collecting ducts
47
What are the complications of medullary sponge kidney?
Kidney stones Metabolic acidosis UTI (stagnant urine)
48
How is medullary sponge kidney diagnosed?
Excretion urography
49
How is medullary sponge kidney treated?
Hydration + citrate supplements (prevent stone formation) Bicarbonate (prevents calcium leaching out of bones) Antibiotics (in the event of UTIs)

The Renal System (37 decks)

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