关键词: Maroteaux-Lamy syndrome cord blood transplantation hematopoietic stem cell transplant lysosomal storage disorder metabolic diseases mucopolysaccharidosis type VI

来  源:   DOI:10.1177/26330040231154283   PDF(Pubmed)

Abstract:
Mucopolysaccharidosis type VI (MPS VI), also known as Maroteaux-Lamy syndrome, polydystrophic dwarfism, and arysulfatase B (ASB) deficiency, is a lysosomal storage disorder with autosomal recessive inheritance characterized by progressive multisystem involved that causes many tissues and organs to enlarge and become inflamed. Skeletal deformities are common that progress and worsen in varying degrees thus affecting quality of life and life expectancy. Many studies have shown that allogeneic hematopoietic stem cell transplantation can reduce morbidity and enhance the survival and quality of life in such patients. We present a case of a 6-year-old girl diagnosed with MPS VI at the age of 3 years. Thereafter the patient developed various complications of the disease causing morbidity. She was then treated with combined umbilical cord blood (UCB) and bone marrow (BM) transplantation from complete human leukocyte antigen-matched (6/6) donor which was her younger sibling. The transplant was successful without any serious adverse effects. No additional treatments such as enzyme replacement therapy (ERT) were required. The transplantation of UCB along with BM can be considered as an effective treatment approach for this rare disease.
UNASSIGNED: Case of MPS VI treated with stem cell transplantation: This article reports a case of a 6-year-old girl who was diagnosed with mucopolysaccharidosis type VI also known as MPS VI, an autosomal recessive disorder that caused her arysulfatase B (ASB) deficiency. This disorder affects growth velocity, gives coarse facial features, gives rise to skeletal deformities, frequent upper-airway infections, enlarged liver and spleen, hearing loss, and joint stiffness. However, very few studies have reported definitive ways to treat or cure MPS VI. To help her combat this disorder, combined umbilical cord blood and bone marrow transplantation was done. This transplant alleviated her symptoms, and the patient did not need any further treatment. Follow-up, 4 years after transplantation, shows normal enzyme level, no complications, and improved quality of life.
摘要:
粘多糖贮积症VI型(MPSVI),也被称为马托-拉米综合征,多营养不良性侏儒症,和芳基硫酸酯酶B(ASB)缺乏症,是一种溶酶体贮积症,具有常染色体隐性遗传,其特征是涉及进行性多系统,导致许多组织和器官扩大并发炎。骨骼畸形很常见,在不同程度上发展和恶化,从而影响生活质量和预期寿命。许多研究表明,异基因造血干细胞移植可以降低此类患者的发病率,提高患者的生存率和生活质量。我们介绍了一例3岁时被诊断患有MPSVI的6岁女孩。此后,患者出现了引起发病的疾病的各种并发症。然后,她接受了来自完整人类白细胞抗原匹配(6/6)供体的脐带血(UCB)和骨髓(BM)联合移植治疗,这是她的年轻兄弟姐妹。移植成功,没有任何严重的不良反应。不需要额外的治疗例如酶替代疗法(ERT)。UCB与BM一起移植可以被认为是这种罕见疾病的有效治疗方法。
接受干细胞移植治疗的MPSVI病例:本文报道了一例6岁女孩,被诊断为粘多糖贮积症VI型,也称为MPSVI,一种常染色体隐性遗传疾病,导致她的芳基硫酸酯酶B(ASB)缺乏症。这种紊乱会影响生长速度,给出粗糙的面部特征,导致骨骼畸形,频繁的上呼吸道感染,肝脏和脾脏肿大,听力损失,和接头刚度。然而,很少有研究报道治疗或治愈MPSVI的明确方法。为了帮助她对抗这种疾病,进行脐血和骨髓移植。这次移植减轻了她的症状,患者不需要任何进一步的治疗。后续行动,移植后4年,显示正常的酶水平,没有并发症,提高了生活质量。
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