Hereditary tyrosinemia presented by hepatocellular carcinoma in adult female patient: An unusual case report

Öz

Tyrosinemia is an inborn metabolic disorder of the amino acid, tyrosine. There are several types of tyrosinemia, the most common of which is type 1, also recognized as hereditary tyrosinemia or hepatorenal tyrosinemia. It is caused by a deficiency of fumarylacetoacetate hydrolase (FAH), a liver enzyme which breaks down tyrosine, affecting major organs such as liver, kidney and peripheral nerves. This condition is especially characterized by progressive liver failure and cirrhosis, which carries a high risk of liver cancer development. Although most patients are diagnosed in childhood, a 17-year- old female patient with hepatocellular carcinoma is presented in this case report.

Anahtar Kelimeler

• Hereditary tyrosinemia, hepatocellular carcinoma

Hepatosellüler karsinom ile gelen herediter tirozinemili erişkin kadın hasta: Sıradışı olgu sunumu

Öz

Tirozinemi, tirozin aminoasidi metabolizmasındaki herediter bozukluktur. Herediter tirozineminin çeşitli klinik formları olmakla birlikte en sık tip 1 herediter tirozinemi diğer adıyla hepatorenal tirozinemi görülür. Bu durum tirozin aminoasidinin yıkımından sorumlu fumaril asetoasetat hidrolaz enzim defektinden kaynaklanır. Temel olarak etkilenen organlar karaciğer, böbrek ve sinir sistemidir. Özellikle progresif karaciğer yetmezliği ve siroz ile karakterize olup bu zeminde artmış karaciğer kanser riski taşırlar. Hastaların çoğu çocukluk çağında belirlenmiş olsa da, bu olgu sunumunda onyedi yaşı nda hepatosellüler karsinom ile tanı alan bir olgu sunulmuştur.

Anahtar Kelimeler

• Herediter tirozinemi, hepatosellüler karsinom

Kaynakça

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