Chapter 48 - Deposition Diseases

Question 1

What’s the term used to describe glycoaminoglycans that are sulphated?

Answer 1

Mucopolysaccharides

Question 2

What enzyme is deficient in Hunter syndrome (MPS II)?

Answer 2

Iduronate 2-sulfatase

*This leads to accumulation of both derma tan sulfate and heparan sulfate

Question 3

How is Hunter syndrome (MPS II) inherited?

Answer 3

X-linked recessive

Question 4

List three gylcoaminoglycans.

Answer 4

Dermatan sulfate, heparan sulfate, and chondroitin sulfate

Question 5

What’s the pathognomonic radiographic finding in the brain or patients with lipoid proteinosis (Urbach-Wiethe disease)?

Answer 5

Sickle-shaped calcifications within the temporal lobes

Question 6

Can pseudogout be clinically distinguished from gout?

Answer 6

No, not reliably, although gout symptoms usually develop rapidly over a few hours, whereas the onset of symptoms in pseudogout occurs over several days

Question 7

What is the underlying abN in gout?

Answer 7

Hyperuricemia –> deposition of monosodium urate in tissue

Question 8

What are the 4 clinical stages of gout?

Answer 8

Asymptomatic hyperuricemia, acute gouty arthritis, inter-critical gout, chronic tophaceous gout

Question 9

What is the deposit involved in pseudogout?

Answer 9

Calcium pyrophosphate dihydrate (CPPD)

Question 10

What is the gene mutation in lipoid proteinosis?

Answer 10

AR of ECM1 gene (extracellular matrix protein 1)

Question 11

What is the underlying pathology in MPS?

Answer 11

Deficiency in lysosomal enzymes that degrade glycosaminoglycans (GAGs) resulting in build up of these GAGs