The management of children with Hunter syndrome – a case study

Abstract

Hunter syndrome (mucopolysaccharidosis type II) is a rare lysosomal storage disease caused by a deficiency of the lysosomal enzyme iduronate-2-sulphatase and the subsequent progressive cellular accumulation of glycosaminoglycans. Children with this debilitating disease can now be offered enzyme replacement therapy (ERT) with idursulfase to manage the signs and symptoms of the disease and to improve quality of life. As therapy involves a weekly infusion of enzyme, travel to the few designated specialist centres that provide treatment can be highly disruptive for both patients and carers. Providing ERT outside the hospital setting therefore offers a convenient alternative that can be delivered effectively with specialist nursing support. The authors report their experience of providing ERT to a patient with Hunter syndrome in a school. Through careful planning and the development of close working relationships between nurses, schools, local hospitals and patients' families, the authors found that managing patients outside the hospital setting can greatly benefit their quality of life.

Idursulfase treatment of Hunter syndrome in children younger than 6 years: Results from the Hunter Outcome Survey

“…However, specific reported incidences of carpal tunnel syndrome, gait problems, history of seizures, difficulty swallowing, and deficits in fine motor skills were seen more often in patients 6 years or older. Table 3 further compares the Behavior problems 24 (20) 60 (22) Hyperactivity 23 (19) 51 (18) Fine motor skill impairment 20 (17) 69 (25) Gait problems 14 (12) 64 (23) Carpal tunnel syndrome 11 (9) 77 (28) Hydrocephalus 8 (7) 26 (9) Frequent chewing 5 (4) 22 (8) History of seizure 3 (3) 31 (11) Difficulty swallowing 2 (2) 27 (10) Other 10 (8) 38 (14) a The prevalence is the number of patients with the sign or symptom reported at least once from birth to last visit in HOS divided by the total number of patients with a "yes" or "no" recorded for the question about neurologic involvement as of April 23, 2010. These signs and symptoms could be self-reported, reported by parents or guardians, or the result of neurologic evaluation by the physician.…”

Retrospective analysis of the clinical manifestations and survival of Korean patients with mucopolysaccharidosis type II: Emphasis on the cardiovascular complication and mortality cases

“…Managing patients outside the hospital setting is considered for ERT of Hunter syndrome [Little et al, 2009], thus careful evaluation and monitoring of the patients should be emphasized before home treatment is planned. Figure 7 represents a one year trial of ERT, and it shows that survival of patients with ERT is better than in patients without ERT.…”

Mucopolysaccharidosis type II: European recommendations for the diagnosis and multidisciplinary management of a rare disease

“…Safety is the primary consideration when providing ERT in the home setting, and strict protocols have been developed to manage the transition from hospital to home care (Figure 4) [42]. Prior to initiation of homecare, the patient's home must be assessed to ensure that it is safe for both the child and the nurse delivering the infusion [43,44]. Patients must have received ERT in hospital for 3-6 months; if patients have previously had IRRs, they must be under control with premedication, and they must not have had an IRR in the 2-8 weeks before homecare is approved and premedication must be given [44].…”