Pediatric Cardiology, Department of Pediatrics, University of Minnesota Medical School, Minneapolis, MN, United States.
Division of Blood and Marrow Transplantation, Department of Pediatrics, University of Minnesota Medical School, Minneapolis, MN, United States.
Mol Genet Metab. 2019 Feb;126(2):117-120. doi: 10.1016/j.ymgme.2018.11.007. Epub 2018 Nov 13.
Hematopoietic cell transplantation (HCT) is accepted therapy for severe mucopolysaccharidosis type I (MPS IH). With implementation of newborn screening (NBS) for MPS I in the US, HCT may now occur earlier than 1-2 years of age and it might be assumed that cardiac issues will be fewer. To examine this hypothesis, we reviewed our records for any MPS IH infant who underwent HCT at ≤6 months of age.
Pre- and (most recent) post-HCT cardiac echos and clinical courses were reviewed in all infants with MPS IH undergoing HCT at ≤6 months of age.
7 MPS IH infants (4 M) who were diagnosed at median (range) (MEDRNG) of 14 (3, 22) days of life (DOL) by NBS [2] or because an older sib had MPS IH [5], began enzyme replacement therapy at MEDRNG of 48 (7, 62) DOL. First pre-HCT echo was performed at MEDRNG of 45 (0, 88) DOL. HCT (6 cord blood, 1 related) occurred at MEDRNG of 131 (105, 183) DOL with most recent echo at MEDRNG of 408 (10, 1897) days after HCT. Mitral regurgitation (≥mild) occurred before (2/7) and after (2/7) HCT; LVH (2/7) occurred after HCT; PFO was common before (5/7) and after (3/7) HCT. One infant had severely decreased function at initial echo and required ICU management. Another infant with a patent foramen ovale and indwelling central line required additional neuroimaging to determine the cause of a seizure. A final infant died unexpectedly 69 days post-HCT without evidence of occlusive coronary disease at autopsy.
In addition to the traditional phenotypic features of severe MPS I, newborns presenting for HCT have cardiac and non-cardiac problems unique to their young age. Recognition of these issues is essential for optimal outcomes.
造血细胞移植（HCT）是治疗严重黏多糖贮积症 I 型（MPS IH）的有效方法。随着美国新生儿筛查（NBS）的实施，HCT 现在可能在 1-2 岁之前进行，并且可以假设心脏问题会更少。为了检验这一假设，我们回顾了所有在≤6 个月龄时接受 HCT 的 MPS IH 婴儿的记录。
所有在≤6 个月龄时接受 HCT 的 MPS IH 婴儿均进行了心脏超声检查，并回顾了他们的心脏超声检查和临床过程。
7 例 MPS IH 婴儿（4 例男性）在 NBS 诊断中位（范围）（MEDRNG）为 14 天（3-22 天）时[2]或因为年长的兄弟姐妹患有 MPS IH[5]，中位（范围）为 48 天（7-62 天）时开始酶替代治疗。第一次术前心脏超声检查在 MEDRNG 为 45 天（0-88 天）时进行。中位（范围）为 131 天（105-183 天）时进行 HCT（6 例脐带血，1 例亲缘），最近一次心脏超声检查在 HCT 后 MEDRNG 为 408 天（10-1897 天）。二尖瓣反流（≥轻度）在 HCT 前（2/7）和 HCT 后（2/7）均有发生；HCT 后出现左心室肥厚（2/7）；房间隔缺损在 HCT 前（5/7）和 HCT 后（3/7）均常见。一名婴儿在初始超声心动图检查时功能严重下降，需要 ICU 治疗。另一名婴儿有卵圆孔未闭和留置中央静脉导管，需要额外的神经影像学检查来确定癫痫发作的原因。最后一名婴儿在 HCT 后 69 天意外死亡，尸检时没有发现阻塞性冠状动脉疾病的证据。
除了严重 MPS IH 的传统表型特征外，接受 HCT 的新生儿还有其年龄特有的心脏和非心脏问题。认识到这些问题对于获得最佳结果至关重要。
