Diagnosis and Management of Mucopolysaccharidosis Type II (Hunter Syndrome) in Poland
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 <i>IDS</i> gene, which leads to accumulation of glycosami...
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MDPI AG
2023-06-01
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| author | Zbigniew Żuber Beata Kieć-Wilk Łukasz Kałużny Jolanta Wierzba Anna Tylki-Szymańska |
| author_facet | Zbigniew Żuber Beata Kieć-Wilk Łukasz Kałużny Jolanta Wierzba Anna Tylki-Szymańska |
| author_sort | Zbigniew Żuber |
| collection | DOAJ |
| description | 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 <i>IDS</i> 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. |
| first_indexed | 2024-03-11T02:44:47Z |
| format | Article |
| id | doaj.art-710a0faa32ff42e284d96547125b4c62 |
| institution | Directory Open Access Journal |
| issn | 2227-9059 |
| language | English |
| last_indexed | 2024-03-11T02:44:47Z |
| publishDate | 2023-06-01 |
| publisher | MDPI AG |
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| spelling | doaj.art-710a0faa32ff42e284d96547125b4c622023-11-18T09:26:32ZengMDPI AGBiomedicines2227-90592023-06-01116166810.3390/biomedicines11061668Diagnosis and Management of Mucopolysaccharidosis Type II (Hunter Syndrome) in PolandZbigniew Żuber0Beata Kieć-Wilk1Łukasz Kałużny2Jolanta Wierzba3Anna Tylki-Szymańska4Department of Pediatrics, Faculty of Medicine and Health Sciences, Andrzej Frycz Modrzewski Krakow University, 30-705 Krakow, PolandUnit of Rare Metabolic Diseases, Department of Metabolic Diseases, Jagiellonian University Medical College, 31-008 Krakow, PolandDepartment of Pediatric Gastroenterology and Metabolic Diseases, Poznan University of Medical Sciences, 61-701 Poznan, PolandDepartment of Pediatrics, Hematology and Oncology, Medical University of Gdansk, 80-210 Gdansk, PolandDepartment of Pediatrics, Nutrition and Metabolic Diseases, The Children’s Memorial Health Institute, 04-730 Warsaw, PolandMucopolysaccharidosis 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 <i>IDS</i> 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.https://www.mdpi.com/2227-9059/11/6/1668lysosomal storage diseasemucopolysaccharidosis IIHunter syndromeenzyme replacement therapy |
| spellingShingle | Zbigniew Żuber Beata Kieć-Wilk Łukasz Kałużny Jolanta Wierzba Anna Tylki-Szymańska Diagnosis and Management of Mucopolysaccharidosis Type II (Hunter Syndrome) in Poland Biomedicines lysosomal storage disease mucopolysaccharidosis II Hunter syndrome enzyme replacement therapy |
| title | Diagnosis and Management of Mucopolysaccharidosis Type II (Hunter Syndrome) in Poland |
| title_full | Diagnosis and Management of Mucopolysaccharidosis Type II (Hunter Syndrome) in Poland |
| title_fullStr | Diagnosis and Management of Mucopolysaccharidosis Type II (Hunter Syndrome) in Poland |
| title_full_unstemmed | Diagnosis and Management of Mucopolysaccharidosis Type II (Hunter Syndrome) in Poland |
| title_short | Diagnosis and Management of Mucopolysaccharidosis Type II (Hunter Syndrome) in Poland |
| title_sort | diagnosis and management of mucopolysaccharidosis type ii hunter syndrome in poland |
| topic | lysosomal storage disease mucopolysaccharidosis II Hunter syndrome enzyme replacement therapy |
| url | https://www.mdpi.com/2227-9059/11/6/1668 |
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