Hunter Syndrome
Also known as Mucopolysaccharidosis Type 2.
Enzyme Deficient : Iduronate 2 sulfatase
Accumulated Sunstance : Heparan Sulfate And Dermatan Sulfate.
Inheritance : X Linked Recessive
History : Named After Charles A. Hunter ( 1873-1955) Described In 1917.
Gene Affected : On X Chromosome Xq28 Location.
Enzyme Deficient : Iduronate 2 sulfatase
Accumulated Sunstance : Heparan Sulfate And Dermatan Sulfate.
Inheritance : X Linked Recessive
History : Named After Charles A. Hunter ( 1873-1955) Described In 1917.
Gene Affected : On X Chromosome Xq28 Location.
Sign And Symptoms : - Abdominal Hernias, Large Abdomen , Hepatosplenomegaly. Cardiolmegaly.
- Sensoneural Deafness, Ear Infections And recurrent Common Cold Attack.
- Facial Appearance : Prominent Forehead, A Flattened Nasal Bridge, . Large Head. Thickening Of The Alae Nasi, Lips, Ear Lobules And Tongue With Plethoric, Rosy-Cheeked Appearance. Thickening Of The Calvaria Results In Macrocephaly
- Obstructive Lung Disease , Limited Lung Capacity
- Joint Involvement With Stiffness And Limited Movement
- Nerve Entrapment Syndromes
- Skin Lesions : Pebbly, Ivory Coloured Lesion First Seen Around The Scapulae And Then On Upper Arms And Legs And Back are Pathognomic Skin Lesion Of Hunter's Syndrome. In Severe Cases.
- 8. Mental retardation .
- 9. NOTE : CLOUDY CORNEA IS NOT FINDING IN HUNTER SYNDROME
Prevalence : 1 In 1,30,000 Male Child , Though Female Child Affected , Prevalence Is Very Low.
Investigation : Same As Hurler Syndrome , i.e.
Urine tests for extra mucopolysaccharides : Heparitin Sulphate And Dermatan Sulfate 1,9-dimethylmethylene blue (DMB) Test And Glycosaminoglycan (GAG) Electrophoresis, And Demonstration Of Enzymatic Deficiency In Leukocytes Or Fibroblasts.
Others Are
ECG
Genetic testing for the I2S gene
X-ray of the spine
Investigation : Same As Hurler Syndrome , i.e.
Urine tests for extra mucopolysaccharides : Heparitin Sulphate And Dermatan Sulfate 1,9-dimethylmethylene blue (DMB) Test And Glycosaminoglycan (GAG) Electrophoresis, And Demonstration Of Enzymatic Deficiency In Leukocytes Or Fibroblasts.
Others Are
ECG
Genetic testing for the I2S gene
X-ray of the spine
Treatment :
Enzyme Replacement Therapy With Recombinant I2S (weekly intravenous infusion over 3 h at a dose of 0.5 mg/kg diluted in an appropriate volume of saline (according to weight).
Others Include As Per Severity And Organ Involvement.
Stem Cell Therapy Is Also useful And Under Trails.
Enzyme Replacement Therapy With Recombinant I2S (weekly intravenous infusion over 3 h at a dose of 0.5 mg/kg diluted in an appropriate volume of saline (according to weight).
Others Include As Per Severity And Organ Involvement.
Stem Cell Therapy Is Also useful And Under Trails.
Posted in
Biochemistry and Molecular Biology
|
7.7.13|By
Dr.Swathi Pai
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