Pjetraj Dorina, Santoro Lucia, Sgattoni Claudia, Padella Lucia, Zampini Lucia, Monachesi Chiara, Gabrielli Orazio, Catassi Carlo
Pediatric Division, Department of Clinical Sciences, Polytechnic University of Marche, Ospedali Riuniti, Presidio Salesi, Ancona, Italy.
Medical Genetics and Rare Disease Coordination, Institute of Maternal-Infantile Sciences, Ospedali Riuniti, Presidio Torrette, Ancona, Italy.
Am J Med Genet A. 2023 Feb;191(2):564-569. doi: 10.1002/ajmg.a.63029. Epub 2022 Nov 5.
Mucopolysaccharidosis type I (MPS I) is an autosomal recessive disorder caused by the deficiency of α-L-iduronidase and characterized by a progressive course with multisystem involvement. Clinically, MPS I is divided into two forms: (1) severe (Hurler syndrome), which presents in infancy and is characterized by rapid progressive neurological involvement; (2) attenuated (Hurler/Scheie and Scheie syndromes), which displays a slower progression and absent to mild nervous system involvement. The specific treatment for attenuated MPS I consists of enzyme-replacement therapy with laronidase (human recombinant α-L-iduronidase, Aldurazyme). We present updated data after 18 years of laronidase treatment in two siblings affected by the attenuated form of MPS I who started therapy at 5 months and 5 years of age, respectively. Clinical and laboratory data of the siblings show that long-term enzyme replacement therapy may improve/stabilize many symptoms already present at the time of the diagnosis and reduce the disease progression. This study confirms that early diagnosis and early initiation of enzyme-replacement therapy are essential to modify positively the natural history of the attenuated form of MPS I.
I型黏多糖贮积症（MPS I）是一种常染色体隐性疾病，由α-L-艾杜糖醛酸酶缺乏引起，其特征为病程呈进行性且累及多系统。临床上，MPS I分为两种类型：（1）重型（Hurler综合征），于婴儿期发病，特征为神经系统受累迅速且呈进行性；（2）轻型（Hurler/Scheie综合征和Scheie综合征），进展较慢，神经系统受累轻微或无受累。轻型MPS I的特效治疗方法为用拉罗尼酶（重组人α-L-艾杜糖醛酸酶，Aldurazyme）进行酶替代治疗。我们展示了分别于5个月和5岁开始接受治疗的两名患轻型MPS I的同胞接受拉罗尼酶治疗18年后的最新数据。这两名同胞的临床和实验室数据表明，长期酶替代治疗可能改善/稳定诊断时已出现的许多症状，并减缓疾病进展。本研究证实，早期诊断并尽早开始酶替代治疗对于积极改变轻型MPS I的自然病程至关重要。
