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
Kaynakça
- Russo PA, Mitchell GA, Tanguay RM. Tyrosinemia: a review. Pedi- atr Dev Pathol 2001; 4: 212-21.
- Grompe M. The pathophysiology and treatment of hereditary tyro- sinemia type 1. Semin Liver Dis 2001; 21: 563-71.
- Holme E, Lindstedt S. Diagnosis and management of tyrosinemia type I. Curr Opin Pediatr 1995; 7: 726-32.
- Bijarnia S, Puri RD, Ruel J, ve ark. Tyrosinemia type I--diagnostic issues and prenatal diagnosis. Indian J Pediatr 2006; 73: 163-5.
- Ashorn M, Pitkanen S, Salo MK, ve ark. Current strategies for the treatment of hereditary tyrosinemia type I. Pediatr Drugs 2006; 8: 47-54.
- Coşkun T, Özalp İ, Koçak N, ve ark. Type 1 hereditary tyrosinemia: Prensentation of 11 cases. J Inherit Metab Dis 1991; 14: 765-70.
- Rootwelt H, Hoie K, Berger R. ve ark. Fumarylacetoacetase mutati- ons in tyrosinaemia type I. Hum Mutat 1996; 7: 239-43.
- Ozcay F, Canan O, Bilezikci B, ve ark. Effect of living donor liver transplantation on outcome of children with inherited liver disease and hepatocellular carcinoma. Clin Transplant 2006; 20: 776-82.
- Endo F, Sun MS. Tyrosinaemia type I and apoptosis of hepatocytes and renal tubular cells. J Inherit Metab Dis 2002; 25: 227-34.
- Bergeron A, Jorquera R, Tanguay RM. Hereditary tyrosinemia: an endoplasmic reticulum stress disorder? Med Sci (Paris) 2003; 19: 976-80.
- Tanguay RM, Jorquera R, Poudrier J, ve ark. Tyrosine and its cata- bolites: from disease to cancer. Acta Biochim Pol 1996; 43: 209-16.
- Castilloux J, Laberge AM, Martin SR, ve ark. "Silent" tyrosinemia presenting as hepatocellular carcinoma in a 10-year-old girl.J Pe- diatr Gastroenterol Nutr 2007; 44: 375-7.
- Mitchell G, Larochelle J, Lambert M. ve ark. Neurologic crises in hereditary tyrosinemia. N Engl J Med 1990; 322: 432-7.
- Dubois J, Garel L, Patriquin H. ve ark. Imaging features of type1 herediatery tyrosinemia: a review of 30 patients. Pediatr Radiol 1996; 26: 845-51.
- Koelink CJ, van Hasselt P, van der Ploeg A, ve ark. Tyrosinemia type I treated by NTBC: how does AFP predict liver cancer? Mol Genet Metab. 2006; 89: 310-5.
- Rank J, Pascual-Leone A, Payne W. ve ark. Hematin therapy for ne- urologic crises of tyrosinemia. J. Pediatr 1991; 118: 136-9.
- McKiernan PJ. Nitisinone in the treatment of hereditary tyrosina- emia type 1. Drugs 2006; 66: 743-50.
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
Kaynakça
- Russo PA, Mitchell GA, Tanguay RM. Tyrosinemia: a review. Pedi- atr Dev Pathol 2001; 4: 212-21.
- Grompe M. The pathophysiology and treatment of hereditary tyro- sinemia type 1. Semin Liver Dis 2001; 21: 563-71.
- Holme E, Lindstedt S. Diagnosis and management of tyrosinemia type I. Curr Opin Pediatr 1995; 7: 726-32.
- Bijarnia S, Puri RD, Ruel J, ve ark. Tyrosinemia type I--diagnostic issues and prenatal diagnosis. Indian J Pediatr 2006; 73: 163-5.
- Ashorn M, Pitkanen S, Salo MK, ve ark. Current strategies for the treatment of hereditary tyrosinemia type I. Pediatr Drugs 2006; 8: 47-54.
- Coşkun T, Özalp İ, Koçak N, ve ark. Type 1 hereditary tyrosinemia: Prensentation of 11 cases. J Inherit Metab Dis 1991; 14: 765-70.
- Rootwelt H, Hoie K, Berger R. ve ark. Fumarylacetoacetase mutati- ons in tyrosinaemia type I. Hum Mutat 1996; 7: 239-43.
- Ozcay F, Canan O, Bilezikci B, ve ark. Effect of living donor liver transplantation on outcome of children with inherited liver disease and hepatocellular carcinoma. Clin Transplant 2006; 20: 776-82.
- Endo F, Sun MS. Tyrosinaemia type I and apoptosis of hepatocytes and renal tubular cells. J Inherit Metab Dis 2002; 25: 227-34.
- Bergeron A, Jorquera R, Tanguay RM. Hereditary tyrosinemia: an endoplasmic reticulum stress disorder? Med Sci (Paris) 2003; 19: 976-80.
- Tanguay RM, Jorquera R, Poudrier J, ve ark. Tyrosine and its cata- bolites: from disease to cancer. Acta Biochim Pol 1996; 43: 209-16.
- Castilloux J, Laberge AM, Martin SR, ve ark. "Silent" tyrosinemia presenting as hepatocellular carcinoma in a 10-year-old girl.J Pe- diatr Gastroenterol Nutr 2007; 44: 375-7.
- Mitchell G, Larochelle J, Lambert M. ve ark. Neurologic crises in hereditary tyrosinemia. N Engl J Med 1990; 322: 432-7.
- Dubois J, Garel L, Patriquin H. ve ark. Imaging features of type1 herediatery tyrosinemia: a review of 30 patients. Pediatr Radiol 1996; 26: 845-51.
- Koelink CJ, van Hasselt P, van der Ploeg A, ve ark. Tyrosinemia type I treated by NTBC: how does AFP predict liver cancer? Mol Genet Metab. 2006; 89: 310-5.
- Rank J, Pascual-Leone A, Payne W. ve ark. Hematin therapy for ne- urologic crises of tyrosinemia. J. Pediatr 1991; 118: 136-9.
- McKiernan PJ. Nitisinone in the treatment of hereditary tyrosina- emia type 1. Drugs 2006; 66: 743-50.
Ayrıntılar
| Birincil Dil | Türkçe |
|---|---|
| Bölüm | Makaleler |
| Yazarlar | |
| Yayımlanma Tarihi | 1 Ağustos 2007 |
| Yayımlandığı Sayı | Yıl 2007 Cilt: 6 Sayı: 2 |
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