Causes and risk factors
Hunter’s syndrome is a genetic metabolic disorder. It occurs when a defective chromosome is inherited by the patient. This chromosome causes malfunctioning of an enzyme called iduronate-2 sulfatase which is responsible for breaking down of complex substances i.e. mucopolysaccharides [gycosaminoglycans]. Thus there is accumulation of these sugar molecules in the cells of the body causing progressive and permanent damage. Risk factors for hunter’s syndrome are positive family history of hunter’s syndrome and being a male. It is seen in children of 2 to 4 years of age.
Clinical presentation
Patient presents with delayed milestones, short stature, and joint stiffness leading to restricted movements. Abnormal facial features include thickening of lips, tongue and nostrils. They have large head, short neck and broad chest. Delayed tooth eruption, hair loss, enlargement of liver and spleen is seen. Two types of symptoms are present in hunter’s syndrome. In early onset [MPS IIA] there is profound mental retardation while in late onset [MPS IIB] intelligence is slightly impaired or normal. Respiratory difficulties, cardiac insufficiencies, vision problems, aggressiveness are also accompanying symptoms.
Investigation
Medical history by the patient’s parents and Clinical examination by the doctor helps in diagnosis. The baby appears normal at birth. Suspects arise on seeing changes in facial features of the child. Tests such blood, urine and tissue sample testing recommended. Genetic analysis confirms the diagnosis. Chest X ray is done if the patient is suffering from recurrent lung infections which reveal irregularly shaped ribs and vertebrae. Amniocentesis [prenatal testing] helps in diagnosis of the disease in the intrauterine life.
Treatment
There is no cure for hunter’s syndrome. It can be treated with bone marrow transplant, enzyme therapy, and gene therapy. Treatment of complications like respiratory difficulties, cardiac insufficiencies, neurological and musculoskeletal problems is required. Supportive care like psychological counselling and behavioural therapy in mentally retarded children will also help in managing patients of hunter’s syndrome.
Other Modes of treatment
The other modes of treatment can also be effective in treating Hunter’s syndrome.
Homoeopathy is a science which deals with individualization considers a person in a holistic way. This science can be helpful in combating the symptoms. Similarly the ayurvedic system of medicine which uses herbal medicines and synthetic derivates are also found to be effective in treating Hunter’s syndrome.
