遗传性酪氨酸血症的肝移植：魁北克的经验
Liver transplantation for hereditary tyrosinemia: the Quebec experience.
作者信息
Paradis K, Weber A, Seidman E G, Larochelle J, Garel L, Lenaerts C, Roy C C
机构信息
Department of Pediatrics and Radiology, Hôpital Sainte-Justine, Montreal, Quebec, Canada.
出版信息
Am J Hum Genet. 1990 Aug;47(2):338-42.
Abstract
Sixteen tyrosinemic patients were evaluated in our institution for a possible liver transplantation. All patients showed biochemical and/or radiological evidence of liver dysfunction. Renal involvement was found to be more abnormal than expected. Seven patients have been transplanted, with two patients receiving a combined liver-kidney transplant. Hepatocarcinoma was detected in two of eight patients in whom the whole liver was examined. Six (37.5%) of the initial 16 patients have died since evaluation, one of the six dying after combined liver-kidney transplantation. Posttransplantation survival was 86%, with normal liver function, normal growth, and no recurrence of neurological crises on a normal diet.
摘要
我们机构对16名酪氨酸血症患者进行了肝移植可能性评估。所有患者均有肝功能不全的生化和/或影像学证据。发现肾脏受累比预期更异常。7名患者已接受移植，其中2名患者接受了肝肾联合移植。在接受全肝检查的8名患者中，有2名检测出肝癌。自评估以来，最初的16名患者中有6名（37.5%）死亡，其中1名在肝肾联合移植后死亡。移植后生存率为86%，肝功能正常，生长正常，正常饮食情况下无神经危机复发。
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本文引用的文献
1
Growth retardation and renal osteodystrophy in children with chronic renal failure.慢性肾衰竭患儿的生长发育迟缓与肾性骨营养不良
J Pediatr. 1983 Nov;103(5):735-40. doi: 10.1016/s0022-3476(83)80467-3.
2
Experience with 37 infants with tyrosinemia.37例酪氨酸血症婴儿的病例经验。
Can Med Assoc J. 1967 Oct 28;97(18):1051-4.
3
Contribution of extrahepatic tissues to biochemical abnormalities in hereditary tyrosinemia type I: study of three patients after liver transplantation.肝外组织对I型遗传性酪氨酸血症生化异常的影响：3例肝移植患者的研究
J Pediatr. 1987 Mar;110(3):399-403. doi: 10.1016/s0022-3476(87)80501-2.
4
Hepatic regenerating nodules in hereditary tyrosinemia.遗传性酪氨酸血症中的肝再生结节
AJR Am J Roentgenol. 1987 Aug;149(2):391-3. doi: 10.2214/ajr.149.2.391.
5
Liver transplantation for metabolic disease of the liver.用于肝脏代谢性疾病的肝移植
Gastroenterol Clin North Am. 1988 Mar;17(1):167-75.
6
Changing concepts: liver replacement for hereditary tyrosinemia and hepatoma.观念的转变：肝移植治疗遗传性酪氨酸血症和肝癌。
J Pediatr. 1985 Apr;106(4):604-6. doi: 10.1016/s0022-3476(85)80081-0.
7
Amplification of the nephrotoxic effect of cyclosporine by preexistent chronic histological lesions in the kidney.预先存在的肾脏慢性组织学病变增强环孢素的肾毒性作用。
Transplantation. 1989 Oct;48(4):590-3.
8
Serial decrease in glomerular filtration rate in long-term pediatric liver transplantation survivors treated with cyclosporine.接受环孢素治疗的长期存活小儿肝移植受者肾小球滤过率的系列性下降
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J Inherit Metab Dis. 1989;12 Suppl 2:339-42. doi: 10.1007/BF03335416.
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