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Hunter syndrome; mucopolysaccharidosis-2; MPS2
Epidemiology:
- rare [4]
Pathology:
- lysosomal accumulation of heparan sulfate & dermatan sulfate & their excretion in urine
Genetics:
- X-linked recessive disorder [4]
- associated with defects in iduronate 2-sulfatase gene
Clinical manifestations:
1) wide range in severity
2) severe cases similar to Hurler's syndrome
3) no corneal clouding
4) deafness
5) retinal degeneration (common)
6) intelligence is normal in mild cases
7) mildly retarded in severe cases
8) cardiovascular
a) multi-valvular lesions
b) coronary artery disease
c) great artery disease
d) cardiomyopathy
9) skin: hypertrichosis* [4]
- pebbling sign of skin with a predilection for the scapular region
* image [4]
Laboratory:
- urine heparan sulfate*
- urine dermatan sulfate*
- IDS gene mutation
* urine heparan sulfate & urine dermatan sulfate excreted in urine
Prognosis: life expectancy: 2nd decade to normal
Management:
- idursulfase
- hematopoietic stem cell transplantation
- gene therapy
Related
dermatan sulfate
heparan sulfate
iduronate-2-sulfatase (IDS, alpha-L-iduronate sulfate sulfatase)
General
mucopolysaccharidosis (MPS)
Properties
ACCUMULATION: heparan sulfate
dermatan sulfate
DEFICIENCY: iduronate-2-sulfatase
References
- Textbook of Biochemistry with Clinical Correlations,
3rd ed., TM Devlin (ed), Wiley-Liss, NY 1992 pg 383
- Cotran et al Robbins Pathologic Basis of Disease,
W.B. Saunders Co, Philadelphia, PA 1989 pg 150
- Harrison's Principles of Internal Medicine, 13th ed.
Isselbacher et al (eds), McGraw-Hill Inc. NY, 1994, pg 1038
- Kumar P, Das PC, Das A.
Images in Dermatology: Hunter Syndrome
JAMA Dermatol. Published online October 19, 2022
PMID: 36260294
https://jamanetwork.com/journals/jamadermatology/fullarticle/2797538