粘多糖贮积症(MPS)IVA,也被称为MorquioA综合征,是一种罕见的常染色体隐性遗传溶酶体贮积症,由N-乙酰半乳糖胺-6-硫酸酯酶缺乏引起。早期识别,诊断,以及对这种进展的治疗,通过酶替代疗法(ERT)治疗多系统疾病可以改善预后并降低死亡率.
本报告记录了三个MPSIVA兄弟姐妹的ERT诊断历程和治疗。临床结果指标包括生长,耐力,成像,心脏,呼吸,眼科,和实验室评估。
三个兄弟姐妹,诊断为14.7、10.1和3.2岁,每周输注2.0mg/kgα-硫酸酯酶证明临床改善(Vimizim®,BioMarin制药,Novato,CA,美国)。患者1(最年长的兄弟姐妹)和患者2(中间兄弟姐妹)在症状发作后经历了8年7个月和4年的诊断延迟。分别。所有三名患者都表现出生长改善,6分钟步行距离,关节运动范围,ERT30个月后的呼吸功能。治疗耐受性良好,无任何不良事件。
本病例系列强调了早期识别MPSIVA最初微妙的临床和影像学发现的重要性。ERT的早期治疗对于减缓不可逆的疾病进展和改善患者预后是必要的。尽管晚期诊断导致严重症状,但年龄最大的兄弟姐妹的活动能力有所改善。在评估骨骼异常患者时,建议对多个身体区域进行成像。当出现椎骨前喙或双侧股骨头发育不良等发现时,MPSIVA应包括在鉴别诊断中。新生儿筛查必须考虑早期发现,准确诊断,并开始治疗以降低发病率。
Mucopolysaccharidosis (MPS) IVA, also known as Morquio A syndrome, is a rare autosomal recessive lysosomal storage disorder caused by a deficiency in the enzyme N-acetylgalactosamine-6-sulfatase. Early recognition, diagnosis, and treatment of this progressive, multisystem disease by enzyme replacement therapy (ERT) can lead to improved outcomes and reduced mortality.
This report documents the diagnostic journey and treatment with ERT of three siblings with MPS IVA. Clinical outcome measures included growth, endurance, imaging, cardiac, respiratory, ophthalmology, and laboratory evaluations.
Three siblings, diagnosed at 14.7, 10.1, and 3.2 years of age, demonstrated clinical improvement with weekly infusions of 2.0 mg/kg elosulfase alfa (Vimizim®, BioMarin Pharmaceutical, Novato, CA, USA). Patient 1 (oldest sibling) and Patient 2 (middle sibling) experienced a diagnostic delay of 8 years 7 months and 4 years after symptom onset, respectively. All three patients demonstrated improvements in growth, 6-min walk distance, joint range of motion, and respiratory function after 30 months of ERT. The treatment was well tolerated without any adverse events.
This case series highlights the importance of early recognition of the clinical and imaging findings that are initially subtle in MPS IVA. Early treatment with ERT is necessary to slow irreversible disease progression and improve patient outcomes. The oldest sibling experienced improvements in mobility despite severe symptoms resulting from a late diagnosis. When evaluating patients with skeletal anomalies, imaging multiple body regions is recommended. When findings such as anterior beaking of vertebrae or bilateral femoral head dysplasia are present, MPS IVA should be included in the differential diagnosis. Newborn screening must be considered for early detection, accurate diagnosis, and initiation of treatment to reduce morbidity.