Żuber Zbigniew, Kieć-Wilk Beata, Kałużny Łukasz, Wierzba Jolanta, Tylki-Szymańska Anna
Department of Pediatrics, Faculty of Medicine and Health Sciences, Andrzej Frycz Modrzewski Krakow University, 30-705 Krakow, Poland.
Unit of Rare Metabolic Diseases, Department of Metabolic Diseases, Jagiellonian University Medical College, 31-008 Krakow, Poland.
Biomedicines. 2023 Jun 8;11(6):1668. 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.
II型黏多糖贮积症（MPS II；也称为亨特综合征）是一种罕见的遗传性溶酶体贮积病。该疾病是由于基因发生突变导致溶酶体酶艾杜糖醛酸-2-硫酸酯酶（I2S）缺乏，进而引起糖胺聚糖（GAGs）蓄积。MPS II患者体内I2S酶活性缺乏导致GAGs在肝脏、脾脏、心脏、骨骼、关节和呼吸道中进行性溶酶体贮积。这一过程扰乱细胞功能，导致多系统疾病表现。不同患者的症状及其发病时间有所不同。MPS II的诊断涉及临床特征、生化参数和分子特征的评估。使用艾杜糖硫酸酯酶（重组人I2S）进行终身酶替代疗法是目前的标准治疗方法。然而，需要一个跨学科的专家团队来监测和评估患者的病情，以确保提供最佳护理。越来越多的这种罕见病患者步入成年期和老年期。从儿科护理向成人医疗保健系统的过渡应按照指南进行规划和实施，以确保患者获得最大益处。
