Liver transplantation in a 23-year-old tyrosinaemia XXXX : effects on the renal tubular dysfunction.

@entity1 @entity1522 @entity101 @entity11089 @entity548 @entity75 @entity843 @entity52824 @entity2262 @entity4434 @entity1391 @entity52729 @entity815 @entity669 @entity360 @entity413
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 @entity11089 , and the @entity1 was treated with a diet restricted in @entity815 and @entity669 . Nineteen months before the transplantation she had an acute episode of diffuse @entity360 due to portal @entity101 . Three subsequent @entity548 episodes with accompanying @entity843 and signs of @entity75 were considered life-threatening. Nine months after the liver transplantation the @entity1 is well, but serum transaminases are slightly elevated. Without dietary restrictions serum @entity669 and inorganic @entity1391 are normalized, no @entity52729 can be detected in serum, and urinary excretion of @entity52824 and p-hydroxyphenylpyruvate is normal. Excretion of @entity1522 , @entity413 and @entity2262 decreased significantly after the transplantation but is still elevated. The @entity52729 concentration in urine is about 20% of the preoperative level. After an oral @entity669 load, @entity52729 excretion increased sevenfold but no deterioration of the renal tubular function was observed and no @entity669 metabolites were detectable in serum. The findings indicate that the defective @entity669 metabolism occurs in the kidneys, but does not produce @entity4434 . The residual @entity4434 of the @entity1 is probably due to irreversible damage of the tubular epithelium.
