Selby R, Starzl T E, Yunis E, Todo S, Tzakis A G, Brown B I, Kendall R S
Department of Surgery, Children's Hospital, University of Pittsburgh, Pennsylvania 15213.
Eur J Pediatr. 1993;152 Suppl 1(Suppl 1):S71-6. doi: 10.1007/BF02072093.
Progressive liver failure or hepatic complications of the primary disease led to orthotopic liver transplantation in eight children with glycogen storage disease over a 9-year period. One patient had glycogen storage disease (GSD) type I (von Gierke disease) and seven patients had type IV GSD (Andersen disease). As previously reported [19], a 16.5-year-old-girl with GSD type I was successfully treated in 1982 by orthotopic liver transplantation under cyclosporine and steroid immunosuppression. The metabolic consequences of the disease have been eliminated, the renal function and size have remained normal, and the patient has lived a normal young adult life. A late portal venous thrombosis was treated successfully with a distal splenorenal shunt. Orthotopic liver transplantation was performed in seven children with type N GSD who had progressive hepatic failure. Two patients died early from technical complications. The other five have no evidence of recurrent hepatic amylopectinosis after 1.1-5.8 postoperative years. They have had good physical and intellectual maturation. Amylopectin was found in many extrahepatic tissues prior to surgery, but cardiopathy and skeletal myopathy have not developed after transplantation. Postoperative heart biopsies from patients showed either minimal amylopectin deposits as long as 4.5 years following transplantation or a dramatic reduction in sequential biopsies from one patient who initially had dense myocardial deposits. Serious hepatic derangement is seen most commonly in types I and IV GSD. Liver transplantation cures the hepatic manifestations of both types. The extrahepatic deposition of abnormal glycogen appears not to be problematic in type I disease, and while potentially more threatening in type IV disease, may actually exhibit signs of regression after hepatic allografting.
在9年期间，进行性肝衰竭或原发性疾病的肝脏并发症导致8例糖原贮积病患儿接受了原位肝移植。1例患者患有I型糖原贮积病（冯·吉尔克病），7例患者患有IV型糖原贮积病（安德森病）。如先前报道[19]，1982年，一名16.5岁的I型糖原贮积病女孩在环孢素和类固醇免疫抑制下通过原位肝移植成功治愈。该疾病的代谢后果已消除，肾功能和肾脏大小保持正常，患者已过上正常的年轻成年人生活。晚期门静脉血栓形成通过远端脾肾分流术成功治疗。7例患有进行性肝衰竭的IV型糖原贮积病儿童接受了原位肝移植。2例患者因技术并发症早期死亡。其他5例患者在术后1.1 - 5.8年没有复发性肝支链淀粉样变的证据。他们的身体和智力发育良好。术前在许多肝外组织中发现了支链淀粉，但移植后未发生心脏病和骨骼肌病。患者术后心脏活检显示，移植后长达4.5年，支链淀粉沉积最少，或者一名最初心肌有密集沉积的患者的连续活检显示沉积显著减少。严重的肝脏紊乱最常见于I型和IV型糖原贮积病。肝移植可治愈这两种类型的肝脏表现。异常糖原的肝外沉积在I型疾病中似乎没有问题，而在IV型疾病中可能更具威胁性，但在肝移植后实际上可能会出现消退迹象。
