Anthropology Laboratory, Children's Memorial Health Institute, Warsaw, Poland.
Department of Paediatrics, Nutrition and Metabolic Diseases, Children's Memorial Health Institute, Warsaw, Poland.
Orphanet J Rare Dis. 2022 Sep 5;17(1):339. doi: 10.1186/s13023-022-02486-4.
Mucopolysaccharidoses (MPS) are a group of lysosomal storage disorders caused by deficient activity of enzymes responsible for the catabolism of glycosaminoglycans (GAGs), resulting in progressive damage to various tissues and organs. Affected individuals present with skeletal deformities, bone growth impairment, joint stiffness and frequently mental retardation.
The objective of the study was to summarise over 30 years of observations of the growth dynamics in patients with different types of MPS, performed at the Children's Memorial Health Institute (CMHI, Warsaw, Poland). A retrospective analysis of anthropometric data collected from 1989 to 2020 was performed for 195 patients with MPS I, MPS II, MPS III, MPS IVA and MPS VI. Mean values for birth body length were statistically significantly greater than in the general population. The mean z-scores for other MPS groups showed that until the 24th month of life, the growth pattern for all patients was similar, and the average z-scores for body height were greater than in reference charts. Afterwards, growth patterns began to differentiate for MPS groups.
The long-term follow up showed that the growth pattern in patients with all types of mucopolysaccharidoses significantly deviates from the general population. Patients with MPS IVA had the most severe growth impairments compared to other patients in the study group. Neuropathic MPS I and II demonstrated severe growth impairments compared to other patients in this study. Patients with MPS III showed the mildest growth impairments compared to other MPS patients and reached the 3rd percentile last.
黏多糖贮积症（MPS）是一组溶酶体贮积病，由负责糖胺聚糖（GAG）分解代谢的酶活性缺乏引起，导致各种组织和器官的进行性损伤。受影响的个体表现出骨骼畸形、骨骼生长受损、关节僵硬，并且经常智力迟钝。
本研究的目的是总结在波兰华沙儿童纪念健康研究所（CMHI）对不同类型 MPS 患者的生长动态进行的 30 多年观察结果。对 1989 年至 2020 年收集的 195 名 MPS I、MPS II、MPS III、MPS IVA 和 MPS VI 患者的人体测量数据进行回顾性分析。MPS I、MPS II、MPS III、MPS IVA 和 MPS VI 患者的出生体长度的平均值明显大于一般人群。其他 MPS 组的平均 z 评分表明，在 24 个月的生命之前，所有患者的生长模式相似，身高的平均 z 评分大于参考图表。之后，生长模式开始分化为不同的 MPS 组。
长期随访表明，所有类型黏多糖贮积症患者的生长模式明显偏离一般人群。与研究组中的其他患者相比，MPS IVA 患者的生长受损最严重。神经型 MPS I 和 MPS II 与本研究中的其他患者相比，生长受损严重。与其他 MPS 患者相比，MPS III 患者的生长受损最轻微，最后达到第 3 百分位。
