Successful Liver Transplants for Liver Failure Associated With Pyruvate Kinase Deficiency
Successful Liver Transplants for Liver Failure Associated With Pyruvate Kinase Deficiency
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DOI：
10.1542/peds.2016-3896
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发表时间：
2018-04-01
期刊：
影响因子：
8
通讯作者：
Alvarez, Fernando
中科院分区：
文献类型：
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作者：
Chartier, Marie-Eve;Hart, Lara;Alvarez, Fernando
丙酮酸激酶缺乏症（PKD）是先天性非球形细胞慢性溶血性贫血的最常见原因，患者通常表现为轻度至重度贫血、非结合型高胆红素血症和脾肿大。只有少数PKD报告记录了其与严重进行性肝衰竭的相关性。在所有这些病例中，患者在肝移植（LT）前或移植后立即死亡。我们报告了2例与PKD相关的肝功能衰竭患者，他们成功地接受了LT和脾切除术：一名婴儿患有新生儿胆汁淤积症，一名年轻成人患有严重形式的PKD，在儿童时期依赖输血。移植后，这两名患者的肝功能检查结果正常，尽管有持续的轻度溶血，但输血需求大大减少。我们认为，PKD可导致严重的肝功能障碍，LT和脾切除术可以挽救生命的程序在这种情况下。
Pyruvate kinase deficiency (PKD) is the most common cause of congenital nonspherocytic chronic hemolytic anemia, and patients normally present with mild to severe anemia, unconjugated hyperbilirubinemia, and splenomegaly. Only a few reports of PKD have documented its association with severe, progressive liver failure. In all those cases, the patients died before liver transplant (LT) or immediately after transplant. We report 2 case patients with liver failure associated with PKD who successfully underwent LT and splenectomy: an infant who presented with neonatal cholestasis and a young adult with a severe form of PKD and having been transfusion dependent during childhood. After transplant, both patients have normal liver function test results and have considerably decreased their need for blood transfusion despite ongoing, mild hemolysis. We suggest that PKD can lead to severe liver dysfunction and that LT and splenectomy can be life-saving procedures in such cases.