Diagnosis and Management of Mucopolysaccharidosis Type II (Hunter Syndrome) in Poland

• Published in: Biomedicines Vol. 11; no. 6; p. 1668
• Main Authors: Żuber, Zbigniew, Kieć-Wilk, Beata, Kałużny, Łukasz, Wierzba, Jolanta, Tylki-Szymańska, Anna
• Format: Journal Article
• Language: English
• Published: Switzerland MDPI AG 01-06-2023; MDPI
• Subjects: Age; Airway management; Birth weight; Births; Care and treatment; Chromatography; Diagnosis; Enzymatic activity; enzyme replacement therapy; Enzymes; Fibroblasts; Genetic aspects; Glycosaminoglycans; Heparan sulfate; Hip joint; Hunter syndrome; Infections; Laboratories; Leukocytes; lysosomal storage disease; Lysosomal storage diseases; Medical research; Medicine, Experimental; Mucopolysaccharidosis; mucopolysaccharidosis II; Mutation; Ostomy; Patients; Pediatrics; Rare diseases; Respiratory tract; Review; Poland; Hunter syndrome; enzyme replacement therapy; mucopolysaccharidosis II; lysosomal storage disease
• ISSN: 2227-9059; 2227-9059
• DOI: 10.3390/biomedicines11061668

Mucopolysaccharidosis type II (MPS II; also known as Hunter syndrome) is a rare, inherited lysosomal storage disease. The disease is caused by deficiency of the lysosomal enzyme iduronate-2-sulphatase (I2S) due to mutations in the
gene, which leads to accumulation of glycosaminoglycans (GAGs). Deficiency of I2S enzyme activity in patients with MPS II leads to progressive lysosomal storage of GAGs in the liver, spleen, heart, bones, joints, and respiratory tract. This process disturbs cellular functioning and leads to multisystemic disease manifestations. Symptoms and their time of onset differ among patients. Diagnosis of MPS II involves assessment of clinical features, biochemical parameters, and molecular characteristics. Life-long enzyme replacement therapy with idursulfase (recombinant human I2S) is the current standard of care. However, an interdisciplinary team of specialists is required to monitor and assess the patient's condition to ensure optimal care. An increasing number of patients with this rare disease reach adulthood and old age. The transition from pediatric care to the adult healthcare system should be planned and carried out according to guidelines to ensure maximum benefit for the patient.