Hepatosellüler karsinom ile gelen herediter tirozinemili eriskin kadin hasta: Siradisi olgu sunumu
Hereditary tyrosinemia presented by hepatocellular carcinoma in adult female patient: An unusual case report
- Ana Sayfa
- Sayılar
- Hepatosellüler karsinom ile gelen herediter tirozinemili eriskin kadin hasta: Siradisi olgu sunumu...
Ankara Numune Arastirma ve Egitim Hastanesi, Gastroenteroloji Klinigi2, Ankara
Ankara Güven Hastanesi, Iç Hastaliklari Klinigi3, Ankara
Özet
Tirozinemi, tirozin aminoasidi metabolizmasindaki herediter bozukluktur. Herediter tirozineminin çesitli klinik formlari olmakla birlikte en sik tip 1 herediter tirozinemi diger adiyla hepatorenal tirozinemi görülür. Bu durum tirozin aminoasidinin yikimindan sorumlu fumaril asetoasetat hidrolaz enzim defektinden kaynaklanir. Temel olarak etkilenen organlar karaciger, böbrek ve sinir sistemidir. Özellikle progresif karaciger yetmezligi ve siroz ile karakterize olup bu zeminde artmis karaciger kanser riski tasirlar. Hastalarin çogu çocukluk çaginda belirlenmis olsa da, bu olgu sunumunda onyedi yasi nda hepatosellüler karsinom ile tani alan bir olgu sunulmustur.
Abstract
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.
