Bilginer Gurbuz Berrak, Aypar Ebru, Coskun Turgay, Alehan Dursun, Dursun Ali, Tokatli Aysegül, Sivri Hatice Serap
Division of Pediatric Metabolism, Hacettepe University, Medical Faculty, Ankara, Turkey.
Division of Pediatric Cardiology, Hacettepe University, Medical Faculty, Ankara, Turkey.
J Pediatr Endocrinol Metab. 2019 Oct 25;32(10):1049-1053. doi: 10.1515/jpem-2019-0293.
Background This study aimed to determine cardiac findings in patients with mucopolysaccharidosis (MPS) and to assess the changes in these findings after enzyme replacement therapy (ERT). Methods A retrospective clinical cohort study was conducted on patients who were diagnosed with MPS between 1995 and 2018 in Hacettepe University, Division of Pediatric Metabolism. A total of 96 patients were diagnosed with MPS during the study period. Of these patients, 81 (84.3%) received ERT. Echocardiographic findings of the patients together with the 6-min walking test (6MWT) results before and after ERT were compared. Results Thirty-one participants (38.2%) were female, while 50 (61.8%) were male. The mean age of the participants was 11.97 ± 6.33 years (range: 1.8-30). Five patients (6.2%) had MPS type I, 14 (17.3%) had type II, 28 (34.6%) had type IVa, 33 (40.7%) had type VI and one (1.2%) had type VII. Before ERT, 69.4% of patients had mitral insufficiency (MI; mild: 40.5%, moderate: 16.5%, severe: 12.7%), 35.4% had aortic insufficiency (AI; mild: 22.8%, moderate: 12.7%) and 45.1% had tricuspid insufficiency (TI; mild: 39.2%, moderate: 2.5%). The median duration of the ERT was 3.5 years. The ERT significantly improved left ventricular hypertrophy (LVH), but all other study variables returned non-significant before and after treatment. ERT may improve LVH in MPS. Bearing in mind that MPS is a progressive disease, ERT seems to prevent significant deterioration of this ailment but is not able to reverse the already settled pathologies except for LVH. ERT is not able to reverse the damage, but provides stabilization; so it is best to initiate treatment before cardiac damage.
背景 本研究旨在确定黏多糖贮积症（MPS）患者的心脏检查结果，并评估酶替代疗法（ERT）后这些结果的变化。方法 对1995年至2018年在哈杰泰佩大学儿科代谢科诊断为MPS的患者进行了一项回顾性临床队列研究。在研究期间，共有96例患者被诊断为MPS。其中，81例（84.3%）接受了ERT。比较了患者ERT前后的超声心动图检查结果以及6分钟步行试验（6MWT）结果。结果 31名参与者（38.2%）为女性，50名（61.8%）为男性。参与者的平均年龄为11.97±6.33岁（范围：1.8 - 30岁）。5例（6.2%）患有I型MPS，14例（17.3%）患有II型，28例（34.6%）患有IVa型，33例（40.7%）患有VI型，1例（1.2%）患有VII型。在ERT前，69.4%的患者有二尖瓣关闭不全（MI；轻度：40.5%，中度：16.5%，重度：12.7%），35.4%有主动脉瓣关闭不全（AI；轻度：22.8%，中度：12.7%），45.1%有三尖瓣关闭不全（TI；轻度：39.2%，中度：2.5%）。ERT的中位持续时间为3.5年。ERT显著改善了左心室肥厚（LVH），但所有其他研究变量在治疗前后均无显著变化。ERT可能改善MPS患者的LVH。考虑到MPS是一种进行性疾病，ERT似乎可以防止该疾病的显著恶化，但除LVH外，无法逆转已经形成的病变。ERT无法逆转损害，但可提供病情稳定；因此，最好在心脏受损之前开始治疗。
