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Clinical Evolution After Enzyme Replacement Therapy in Twins with the Severe Form of Maroteaux–Lamy Syndrome

机译:严重的Maroteaux-Lamy综合征双胞胎进行酶替代治疗后的临床进展

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摘要

Mucopolysaccharidosis type VI (MPS VI) is a progressive, autosomal, recessive lysosomal disorder. This disorder, due to a deficiency in N-acetylgalactosamine-4-sulfatase (ASB), results in an accumulation of glycosaminoglycan (GAG), causing multiple organ failures. In this study, monochorionic biamniotic twins with the severe form of MPS VI underwent enzyme replacement therapy (ERT) with weekly infusions of recombinant human ASB (galsulfase) at 1 mg/kg. After 9 years of ERT, a comprehensive clinical examination was performed. Several types of biochemical, immunological, and genetic investigations were also conducted. Both twins showed the typical symptoms and signs of MPS VI at baseline, including short stature, progressive dysmorphic facial features, and dysostosis multiplex. Twin 2 presented stronger multisystemic involvement, with marked musculoskeletal, neurological, and odontological components. She also developed an ischemic spinal cord lesion after surgery, which is the first case described in the literature in Maroteaux–Lamy syndrome. However, the extent of disease was found to be equally stabilized in the two sisters, concretely the cardiac and respiratory functions and body length. The early diagnosis and treatment of MPS VI are critical for an optimal clinical outcome, and further evidence for the new treatment strategies is needed.
机译:VI型粘多糖贮积病(MPS VI)是一种进行性常染色体隐性溶酶体疾病。由于N-乙酰半乳糖胺-4-硫酸酯酶(ASB)的缺乏,这种疾病导致糖胺聚糖(GAG)的积累,从而导致多器官衰竭。在这项研究中,患有MPS VI严重形式的单绒毛膜双羊膜双胞胎接受了酶替代疗法(ERT),每周以1 mg / kg的剂量输注重组人ASB(半硫酸酯酶)。经过ERT 9年后,进行了全面的临床检查。还进行了几种类型的生化,免疫和遗传研究。两对双胞胎在基线时均表现出MPS VI的典型症状和体征,包括身材矮小,面部进行性畸形和多发性吞咽困难。 Twin 2表现出更强的多系统参与性,并具有明显的肌肉骨骼,神经和牙科学成分。她还在手术后出现了缺血性脊髓病变,这是Maroteaux-Lamy综合征文献中描述的第一例。但是,发现两个姐妹的疾病程度均保持稳定,具体而言是心脏和呼吸功能以及体长。 MPS VI的早期诊断和治疗对于最佳临床结果至关重要,因此需要新的治疗策略的进一步证据。

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