Ringdén O, Groth C G, Erikson A, Bäckman L, Granqvist S, Månsson J E, Svennerholm L
Department of Transplantation Surgery, Karolinska Institute, Huddinge Hospital, Stockholm, Sweden.
Transplantation. 1988 Jul;46(1):66-70. doi: 10.1097/00007890-198807000-00011.
A 9-year-old girl with juvenile Gaucher disease underwent splenectomy and allogeneic bone marrow transplantation. Her HLA-identical brother with normal cerebroside-beta-glucosidase activity served as donor. One month after transplantation, cerebroside-beta-glucosidase activity in the lymphocytes were normal. Plasma glucosylceramide normalized already after splenectomy and further decreased after marrow transplantation. Glucosylceramide in the erythrocytes was normal around a year after transplantation. The enlarged liver normalized in size by 2 years. Gaucher cells were still present in the bone marrow 1 year after transplantation but had completely disappeared at 3 years. The patient has grown 29 cm during the 5 years that have passed after transplantation compared to 1 cm/year during 3 years before. The patient has a slight obstructive ventilatory impairment, and chest deformities have appeared. Wechsler intelligence scale performance has slowly decreased after transplantation. This may be caused by continued neuronal storage of glucosylceramide. Otherwise, this patient is active and healthy 5 years after bone marrow transplantation.
一名患有青少年戈谢病的9岁女孩接受了脾切除术和异基因骨髓移植。她具有HLA相同且脑苷脂β - 葡萄糖苷酶活性正常的哥哥作为供体。移植后1个月，淋巴细胞中的脑苷脂β - 葡萄糖苷酶活性正常。脾切除术后血浆葡萄糖神经酰胺已恢复正常，骨髓移植后进一步降低。移植后约一年，红细胞中的葡萄糖神经酰胺恢复正常。肿大的肝脏在2年后大小恢复正常。移植后1年骨髓中仍存在戈谢细胞，但在3年时已完全消失。与移植前3年每年生长1厘米相比，患者在移植后的5年中长高了29厘米。患者有轻度阻塞性通气功能障碍，且出现了胸部畸形。移植后韦氏智力量表表现缓慢下降。这可能是由于葡萄糖神经酰胺在神经元中持续蓄积所致。除此之外，该患者在骨髓移植5年后活跃且健康。
