Department of Pediatrics, National Taiwan University Hospital and College of Medicine, National Taiwan University, Taipei, Taiwan.
Department of Pediatrics, National Taiwan University Hospital Yunlin Branch, Yunlin, Taiwan.
Front Endocrinol (Lausanne). 2023 Aug 15;14:1150498. doi: 10.3389/fendo.2023.1150498. eCollection 2023.
The life expectancy of Pompe disease patients has increased due to improved neonatal screening and enzyme replacement therapy. Nevertheless, the potential effect of frequent medical device exposure on pubertal development in these patients is not well understood, so further investigation is warranted.
In this cross-sectional study, we assessed the growth and puberty of nine Pompe disease patients. In addition, to determine the effects of frequent plastic medical device exposure in these patients, we measured urinary phthalate metabolites before and one day after enzyme replacement therapy.
Five out of nine patients (55%) with Pompe disease on enzyme replacement therapy had precocious puberty. Patients with precocious puberty had significantly shorter predicted adult heights compared to those with normal puberty ( = 0.014). The levels of mono-2-ethylhexyl phthalate (MEHP) and mono(2-ethyl-5-carboxypentyl) phthalate (MECPP) increased after enzyme replacement therapy, but the average levels of phthalate metabolites did not significantly differ between patients with normal and precocious puberty.
Pompe disease patients on enzyme replacement therapy tend to have precocious puberty, which may reduce their adult height. There are no significant differences in urinary phthalate metabolites between normal and precocious puberty patients. Regular follow-up of growth and puberty in Pompe disease patients is important to improve their health outcomes.
由于新生儿筛查和酶替代疗法的改进，庞贝病患者的预期寿命有所延长。然而，这些患者频繁接触医疗设备对青春期发育的潜在影响尚不清楚，因此需要进一步研究。
在这项横断面研究中，我们评估了 9 名庞贝病患者的生长和青春期发育情况。此外，为了确定频繁接触塑料医疗设备对这些患者的影响，我们在酶替代疗法前后一天测量了尿邻苯二甲酸酯代谢物。
在接受酶替代疗法的 9 名庞贝病患者中，有 5 名（55%）出现性早熟。性早熟患者的成人身高预测值明显低于青春期正常患者（ = 0.014）。酶替代疗法后，单-2-乙基己基邻苯二甲酸酯（MEHP）和单（2-乙基-5-羧基戊基）邻苯二甲酸酯（MECPP）的水平升高，但青春期正常和性早熟患者的邻苯二甲酸代谢物平均水平没有显著差异。
接受酶替代疗法的庞贝病患者往往会出现性早熟，这可能会降低他们的成年身高。青春期正常和性早熟患者的尿邻苯二甲酸代谢物无显著差异。定期随访庞贝病患者的生长和青春期发育对于改善他们的健康结果很重要。
