The management of children with Hunter syndrome - a case study.
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.
Little
Catherine
C
Clinical Inherited Metabolic Disorders, Birmingham Children's Hospital, Birmingham.
Gould
Rachel
R
Hendriksz
Chris
C
D000293:Adolescent; D018718:Home Infusion Therapy; D006801:Humans; D007066:Iduronate Sulfatase / Q000627:therapeutic use*; D008297:Male; D016532:Mucopolysaccharidosis II / Q000175:diagnosis / Q000235:genetics / Q000523:psychology / Q000628:therapy*; D009720:Nurse Clinicians / Q000458:organization & administration*; D024802:Nurse's Role; D009730:Nursing Assessment; D011788:Quality of Life; D012573:School Nursing / Q000458:organization & administration*
D007066:Iduronate Sulfatase; C517982:idursulfase