骨髓移植治疗后，黏多糖贮积症I型临床特征的逆转及生化指标的改善。

Reversal of clinical features of Hurler's disease and biochemical improvement after treatment by bone-marrow transplantation.

作者信息

Hobbs J R, Hugh-Jones K, Barrett A J, Byrom N, Chambers D, Henry K, James D C, Lucas C F, Rogers T R, Benson P F, Tansley L R, Patrick A D, Mossman J, Young E P

出版信息

Lancet. 1981 Oct 3;2(8249):709-12. doi: 10.1016/s0140-6736(81)91046-1.

DOI:10.1016/s0140-6736(81)91046-1

PMID:6116856

Abstract

A one-year-old boy with type I H mucopolysaccharidosis (Hurler's disease) was given a bone-marrow transplant (BMT) from his mother in an attempt to replace the deficient enzyme, alpha-L-iduronidase (iduronidase). These is definite evidence of engraftment, the enzyme activity of the recipient's leucocytes reaching heterozygote levels within 37 days of the BMT. Graft-versus-host disease (GVHD) developed but was partially controlled by steroids. From 3-4 months after graft until the present (13 months after the graft) iduronidase activity has been present in the serum and the urine and there has been evidence of considerable degradation of glycosaminoglycans excreted in the urine. The hepatosplenomegaly has disappeared, corneal clouding has cleared, and deterioration in the child's development seems to have been arrested.

摘要

一名患有I型黏多糖贮积症（Hurler病）的1岁男孩接受了来自其母亲的骨髓移植（BMT），试图替代缺乏的酶——α-L-艾杜糖醛酸酶（艾杜糖醛酸酶）。有明确的植入证据，受者白细胞的酶活性在骨髓移植后37天内达到杂合子水平。发生了移植物抗宿主病（GVHD），但通过类固醇得到了部分控制。从移植后3 - 4个月到目前（移植后13个月），血清和尿液中一直存在艾杜糖醛酸酶活性，并且有证据表明尿液中排出的糖胺聚糖有相当程度的降解。肝脾肿大已消失，角膜混浊已消退，并且孩子发育的恶化似乎已得到遏制。