Lampe Christina, Bosserhoff Ann-Kathrin, Burton Barbara K, Giugliani Roberto, de Souza Carolina F, Bittar Camila, Muschol Nicole, Olson Rebecca, Mendelsohn Nancy J
Department of Pediatric and Adolescent Medicine, Villa Metabolica, University Medical Center of Mainz, Mainz, Germany,
J Inherit Metab Dis. 2014 Sep;37(5):823-9. doi: 10.1007/s10545-014-9686-7. Epub 2014 Mar 5.
No published clinical trial data are available to inform the use of enzyme replacement therapy (ERT) in patients with the severe (neuropathic) phenotype of mucopolysaccharidosis II (MPS II). Current guidelines recommend ERT administered intravenously be used on a trial basis in this population.
AIMS/METHODS: A retrospective chart review was conducted at five international centers for this case series of 22 patients with neuropathic MPS II who received intravenous idursulfase 0.5 mg/kg weekly for at least 2 consecutive years. We collected data about urinary glycosaminoglycan levels, adverse events, and the following somatic signs/symptoms: skeletal disease, joint range of motion, liver/spleen size, respiratory infections, cardiac disease, diarrhea, skin/hair texture, and hospitalizations.
The age at diagnosis was 2 months to 5 years, and the age at idursulfase initiation was between 18 months and 21 years. One of 22 patients experienced improvements in seven somatic signs/symptoms; 17/22 experienced improvements in five to six somatic signs/symptoms; and 4/22 experienced improvements in four somatic signs/symptoms. None experienced fewer than four improvements. No new safety concerns arose. Infusion-related reactions were experienced by 4/22 patients but were successfully managed using accepted strategies.
Long-term treatment with idursulfase was associated with improvements in somatic manifestations in this case series of patients with neuropathic MPS II. The family and medical team should maintain open lines of communication to make treatment decisions that take into consideration the benefits and limitations of ERT in this population.
目前尚无已发表的临床试验数据可用于指导黏多糖贮积症II型（MPS II）严重（神经病变型）表型患者使用酶替代疗法（ERT）。当前指南建议在该人群中试行静脉注射ERT。
目的/方法：在五个国际中心对本病例系列中的22例神经病变型MPS II患者进行了回顾性病历审查，这些患者接受每周一次静脉注射艾杜糖醛酸酶0.5mg/kg，持续至少2年。我们收集了尿糖胺聚糖水平、不良事件以及以下躯体体征/症状的数据：骨骼疾病、关节活动范围、肝/脾大小、呼吸道感染、心脏病、腹泻、皮肤/毛发质地和住院情况。
诊断时的年龄为2个月至5岁，开始使用艾杜糖醛酸酶时的年龄在18个月至21岁之间。22例患者中有1例在7种躯体体征/症状方面有所改善；17/22例在5至6种躯体体征/症状方面有所改善；4/22例在4种躯体体征/症状方面有所改善。无一例改善少于4种。未出现新的安全问题。4/22例患者出现了输液相关反应，但采用公认策略成功处理。
在本病例系列的神经病变型MPS II患者中，长期使用艾杜糖醛酸酶与躯体表现的改善相关。家庭和医疗团队应保持开放的沟通渠道，以便做出考虑到ERT在该人群中的益处和局限性的治疗决策。
