Barak Sharon, Anikster Yair, Sarouk Ifat, Stern Eve, Eisenstein Etzyona, Yissar Tamar, Sherr-Lurie Nir, Raas-Rothschild Annick, Guttman Dafna
Department of Pediatric Rehabilitation, Edmond and Lily Safra Children's Hospital, Chaim Sheba Medical Center, Ramat-Gan 5265601, Israel.
Kaye Academic College of Education, M.Ed. programs, Beer-Sheva 8414201, Israel.
Diagnostics (Basel). 2020 Feb 17;10(2):108. doi: 10.3390/diagnostics10020108.
Enzyme replacement therapy (ERT) is one of the available therapies for mucopolysaccharidosis (MPS). This study presents a follow-up of two siblings with MPS IVA (Morquio A disease) that received ERT. Both siblings received weekly intravenous infusions of elosulfase alfa for 4.5 years. One sibling (patient 1, P1; male) started therapy at 54 months of age, and the other sibling (patient 2, P2; female) started at 11 months of age. ERT was well-tolerated. In comparison to P1, P2's growth curves deviated less from the norm. The orthopedic deformities of P1 were more severe than those of P2 and required several surgical corrections. P1's sleep test at 48 months revealed obstructive sleep apnea, while by the age of 102 months, parameters were normal. P2 never had sleep apnea. Only P1 demonstrated ear, nose, and throat clinical illnesses. In comparison to P1, P2's physical function was better maintained. In conclusion, ERT was safe in both patients during a 4.5-year follow-up. Although the typical characteristics of this disease were similar in both patients, P1 had a complex clinical course in comparison to P2, which influenced function and quality of life. Therefore, in order to make the most of ERT, it may be more beneficial when initiated at a relatively young age.
酶替代疗法（ERT）是黏多糖贮积症（MPS）可用的治疗方法之一。本研究对两名接受ERT治疗的MPS IVA（莫尔基奥A病）患儿进行了随访。两名患儿均接受了4.5年的每周一次艾洛硫酸酯酶α静脉输注治疗。其中一名患儿（患者1，P1；男性）在54个月大时开始治疗，另一名患儿（患者2，P2；女性）在11个月大时开始治疗。ERT耐受性良好。与P1相比，P2的生长曲线与正常曲线的偏差较小。P1的骨科畸形比P2更严重，需要多次手术矫正。P1在48个月时的睡眠测试显示有阻塞性睡眠呼吸暂停，而到102个月大时，各项参数均正常。P2从未出现过睡眠呼吸暂停。只有P1表现出耳鼻喉临床疾病。与P1相比，P2的身体功能得到了更好的维持。总之，在4.5年的随访中，ERT对两名患者均安全。尽管两名患者的这种疾病的典型特征相似，但与P2相比，P1的临床病程较为复杂，这影响了其功能和生活质量。因此，为了充分利用ERT，在相对年幼时开始治疗可能更有益。
