Advanced Therapies Program, M Health, University of Minnesota, Minneapolis, MN 55454, USA.
Genes (Basel). 2022 Jul 22;13(8):1293. doi: 10.3390/genes13081293.
Mucopolysaccharidosis type I (MPS I) is a rare inherited lysosomal disorder caused by deficiency of the α-L-iduronidase enzyme, resulting in the progressive accumulation of glycosaminoglycans (GAGs), which interfere with the normal function of multiple tissues and organs. The clinical phenotype includes characteristic facial features, hepatosplenomegaly, dysostosis multiplex, umbilical and inguinal hernias, progressive cognitive deficits with corresponding hydrocephalus, and neuropathology. Untreated children do not survive into the second decade. The common cardiac phenotype seen in MPS I and other MPS types includes valve thickening and dysfunction, conduction abnormalities, coronary artery disease, and cardiomyopathy-usually seen later in the disease course. A 15-month-old ex-35-weeker who presented with cardiomyopathy and left ventricular failure at the age of three weeks is presented here. Early evaluation and diagnosis with the help of newborn screening (NBS), followed by treatment with enzyme replacement therapy (ERT) and hematopoietic stem cell transplantation (HSCT), resulted in improvement of his cardiopulmonary status. In MPS I, an early cardiac phenotype is uncommon. Based on the evidence from the literature review for early neonatal cardiac phenotype, we propose that all infants with abnormal newborn screening for MPS I should receive cardiac screening with echocardiogram and NT-proB-type natriuretic peptide (BNP) during the initial evaluation.
黏多糖贮积症 I 型（MPS I）是一种罕见的遗传性溶酶体贮积病，由α-L-艾杜糖苷酸酶缺乏引起，导致糖胺聚糖（GAGs）的进行性积累，从而干扰多个组织和器官的正常功能。临床表型包括特征性面容、肝脾肿大、多发性骨发育不良、脐疝和腹股沟疝、进行性认知障碍伴相应的脑积水以及神经病理学改变。未经治疗的患儿无法存活至第二个十年。MPS I 和其他 MPS 类型中常见的心脏表型包括瓣膜增厚和功能障碍、传导异常、冠状动脉疾病和心肌病——通常在疾病后期出现。这里介绍了一名 15 个月大的 35 周早产儿，他在 3 周大时因心肌病和左心室衰竭就诊。在新生儿筛查（NBS）的帮助下早期评估和诊断，随后进行酶替代治疗（ERT）和造血干细胞移植（HSCT），改善了他的心肺状况。在 MPS I 中，早期的心脏表型并不常见。基于文献综述中关于新生儿期心脏表型的证据，我们建议所有 MPS I 新生儿筛查异常的婴儿在初次评估期间应接受超声心动图和 N 端脑利钠肽前体（NT-proBNP）的心脏筛查。
