Chapter 48 - Deposition Diseases Flashcards
What’s the term used to describe glycoaminoglycans that are sulphated?
Mucopolysaccharides
What enzyme is deficient in Hunter syndrome (MPS II)?
Iduronate 2-sulfatase
*This leads to accumulation of both derma tan sulfate and heparan sulfate
How is Hunter syndrome (MPS II) inherited?
X-linked recessive
List three gylcoaminoglycans.
Dermatan sulfate, heparan sulfate, and chondroitin sulfate
What’s the pathognomonic radiographic finding in the brain or patients with lipoid proteinosis (Urbach-Wiethe disease)?
Sickle-shaped calcifications within the temporal lobes
Can pseudogout be clinically distinguished from gout?
No, not reliably, although gout symptoms usually develop rapidly over a few hours, whereas the onset of symptoms in pseudogout occurs over several days
What is the underlying abN in gout?
Hyperuricemia –> deposition of monosodium urate in tissue
What are the 4 clinical stages of gout?
Asymptomatic hyperuricemia, acute gouty arthritis, inter-critical gout, chronic tophaceous gout
What is the deposit involved in pseudogout?
Calcium pyrophosphate dihydrate (CPPD)
What is the gene mutation in lipoid proteinosis?
AR of ECM1 gene (extracellular matrix protein 1)
What is the underlying pathology in MPS?
Deficiency in lysosomal enzymes that degrade glycosaminoglycans (GAGs) resulting in build up of these GAGs
