Kvittingen E A, Jellum E, Stokke O, Flatmark A, Bergan A, Sødal G, Halvorsen S, Schrumpf E, Gjone E
J Inherit Metab Dis. 1986;9(2):216-24. doi: 10.1007/BF01799465.
Orthotopic liver transplantation was performed on a 23-year-old female with hereditary tyrosinaemia. The disorder was diagnosed at 7 years of age due to severe rickets, and the patient was treated with a diet restricted in phenylalanine and tyrosine. Nineteen months before the transplantation she had an acute episode of diffuse gastrointestinal bleeding due to portal hypertension. Three subsequent bleeding episodes with accompanying ascites and signs of encephalopathy were considered life-threatening. Nine months after the liver transplantation the patient is well, but serum transaminases are slightly elevated. Without dietary restrictions serum tyrosine and inorganic phosphate are normalized, no succinylacetone can be detected in serum, and urinary excretion of p-hydroxyphenyllactate and p-hydroxyphenylpyruvate is normal. Excretion of amino acids, glucose and beta 2-microglobulin decreased significantly after the transplantation but is still elevated. The succinylacetone concentration in urine is about 20% of the preoperative level. After an oral tyrosine load, succinylacetone excretion increased sevenfold but no deterioration of the renal tubular function was observed and no tyrosine metabolites were detectable in serum. The findings indicate that the defective tyrosine metabolism occurs in the kidneys, but does not produce tubular dysfunction. The residual tubular dysfunction of the patient is probably due to irreversible damage of the tubular epithelium.
对一名患有遗传性酪氨酸血症的23岁女性进行了原位肝移植。该疾病在患者7岁时因严重佝偻病被诊断出来，患者接受了限制苯丙氨酸和酪氨酸的饮食治疗。在移植前19个月，她因门静脉高压出现了一次急性弥漫性胃肠道出血。随后又发生了三次出血事件，并伴有腹水和脑病迹象，被认为危及生命。肝移植九个月后，患者情况良好，但血清转氨酶略有升高。在没有饮食限制的情况下，血清酪氨酸和无机磷酸盐恢复正常，血清中未检测到琥珀酰丙酮，对羟基苯乳酸和对羟基苯丙酮酸的尿排泄正常。移植后氨基酸、葡萄糖和β2-微球蛋白的排泄显著减少，但仍高于正常水平。尿中琥珀酰丙酮浓度约为术前水平的20%。口服酪氨酸负荷后，琥珀酰丙酮排泄增加了七倍，但未观察到肾小管功能恶化，血清中也未检测到酪氨酸代谢产物。这些发现表明，酪氨酸代谢缺陷发生在肾脏，但不会导致肾小管功能障碍。患者残留的肾小管功能障碍可能是由于肾小管上皮的不可逆损伤。
