Kosnik-Infinger Libby, Gendron Craig, Gordon Christopher B, Pan Brian S, van Aalst John A, Vogel Timothy W
Divisions of 1 Pediatric Neurosurgery and.
Neurosurg Focus. 2015 May;38(5):E10. doi: 10.3171/2015.2.FOCUS14847.
Hypophosphatasia (HPP) is a rare inherited disorder of bone metabolism that results in the loss of function of the gene coding for tissue-nonspecific alkaline phosphatase (TNSALP). Patients with HPP have defective bone mineralization as well as craniosynostosis that can be seen in the infantile and childhood forms of this disease. Traditionally, HPP has had a poor prognosis, with few children surviving to exhibit the phenotype of clinical craniosynostosis that requires surgical intervention. Here, the authors report on new advancements in enzyme replacement therapy (ERT) for children affected by HPP, allowing these patients to survive and undergo surgery to address complex craniosynostosis. The authors discuss their case series of 4 HPP patients treated at their institution with ERT who have undergone successful surgical intervention for craniosynostosis. These children had no complications related to their surgeries and exhibited decreased neurological symptoms following cranial vault remodeling. This study reveals that ERT administered either pre- or post- operatively paired with cranial vault remodeling strategies can yield improved neurological outcomes in children affected by HPP.
低磷酸酯酶症（HPP）是一种罕见的骨代谢遗传性疾病，它导致编码组织非特异性碱性磷酸酶（TNSALP）的基因功能丧失。HPP患者存在骨矿化缺陷以及颅缝早闭，这在该疾病的婴儿期和儿童期形式中可见。传统上，HPP的预后较差，很少有儿童存活至出现需要手术干预的临床颅缝早闭表型。在此，作者报告了针对受HPP影响儿童的酶替代疗法（ERT）的新进展，使这些患者能够存活并接受手术以解决复杂的颅缝早闭问题。作者讨论了他们在其机构治疗的4例接受ERT治疗的HPP患者的病例系列，这些患者已成功接受颅缝早闭手术干预。这些儿童手术无相关并发症，并且在颅盖重塑后神经症状有所减轻。这项研究表明，术前或术后给予ERT并结合颅盖重塑策略可改善受HPP影响儿童的神经学结局。
