Society of Mucopolysaccharide Diseases, MPS House, Repton Place, White Lion Road, Amersham, HP7 9LP, UK.
Adult Inherited Metabolic Disorders, The Mark Holland Metabolic Unit, Salford, UK.
Orphanet J Rare Dis. 2017 Oct 23;12(1):168. doi: 10.1186/s13023-017-0717-y.
Sanfilippo syndrome (mucopolysaccharidosis type III; MPS III) is an inherited monogenic lysosomal storage disorder divided into subtypes A, B, C and D. Each subtype is characterized by deficiency of a different enzyme participating in metabolism of heparan sulphate. The resultant accumulation of this substrate in bodily tissues causes various malfunctions of organs, ultimately leading to premature death. Eighty-four, 24 and 5 death certificates of patients with Sanfilippo syndrome types A, B and C, respectively, were obtained from the Society of Mucopolysaccharide Diseases (UK) to better understand the natural course of these conditions, covering the years 1977-2007.
In Sanfilippo syndrome type A mean age at death (± standard deviation) was 15.22 ± 4.22 years, 18.91 ± 7.33 years for patients with Sanfilippo syndrome type B and 23.43 ± 9.47 years in Sanfilippo syndrome type C. Patients with Sanfilippo syndrome type A showed significant increase in longevity over the period of observation (p = 0.012). Survival rates of patients with Sanfilippo syndrome type B did not show a statistically significant improvement (p = 0.134). In Sanfilippo syndrome types A and B, pneumonia was identified as the leading cause of death.
The analysis of 113 death certificates of patients with Sanfilippo syndrome in the UK has demonstrated that the longevity has improved significantly in patients with Sanfilippo syndrome type A over a last few decades. The numbers of patients with Sanfilippo syndrome types B and C were too small to identify any significant trend changes for these groups. Respiratory tract infections, notably pneumonia, remain the leading cause of mortality in Sanfilippo syndrome types A and B. The extended lifespans of patients with Sanfilippo syndrome type A were achieved despite the lack of therapies to target the primary insult or pathophysiology of the disease. However, the mean age at death of these patients remains low when compared with the general population. Therefore, there is an urgent need for effective disease-specific therapies to be developed so that the quality of life and survival of patients with Sanfilippo syndrome can be improved.
黏多糖贮积症 III 型（Sanfilippo 综合征；MPS III）是一种遗传性单基因溶酶体贮积病，可分为 A、B、C 和 D 四型。各亚型的特征是缺乏参与硫酸乙酰肝素代谢的不同酶。该底物在身体组织中的积累导致各种器官功能障碍，最终导致过早死亡。从英国黏多糖贮积症协会（Mucopolysaccharide Diseases Society，UK）获得了 84 份 Sanfilippo 综合征 A 型、24 份 B 型和 5 份 C 型患者的死亡证明，以更好地了解这些疾病的自然病程，涵盖了 1977 年至 2007 年期间。
Sanfilippo 综合征 A 型患者的平均死亡年龄（±标准差）为 15.22±4.22 岁，Sanfilippo 综合征 B 型为 18.91±7.33 岁，Sanfilippo 综合征 C 型为 23.43±9.47 岁。Sanfilippo 综合征 A 型患者的寿命在观察期间有显著延长（p=0.012）。Sanfilippo 综合征 B 型患者的生存率没有显示出统计学上的显著改善（p=0.134）。在 Sanfilippo 综合征 A 型和 B 型中，肺炎被确定为主要死亡原因。
对英国 113 名 Sanfilippo 综合征患者的死亡证明进行分析表明，在过去几十年中，Sanfilippo 综合征 A 型患者的寿命显著延长。Sanfilippo 综合征 B 型和 C 型患者的数量太少，无法确定这些组别的任何显著趋势变化。呼吸道感染，特别是肺炎，仍然是 Sanfilippo 综合征 A 型和 B 型的主要死亡原因。Sanfilippo 综合征 A 型患者的延长寿命是在缺乏针对疾病原发性损伤或病理生理学的治疗方法的情况下实现的。然而，与普通人群相比，这些患者的平均死亡年龄仍然较低。因此，迫切需要开发有效的疾病特异性治疗方法，以提高 Sanfilippo 综合征患者的生活质量和生存率。
