Chapter title |
Tyrosinemia and Liver Transplantation: Experience at CHU Sainte-Justine
|
---|---|
Chapter number | 5 |
Book title |
Hereditary Tyrosinemia
|
Published in |
Advances in experimental medicine and biology, January 2017
|
DOI | 10.1007/978-3-319-55780-9_5 |
Pubmed ID | |
Book ISBNs |
978-3-31-955779-3, 978-3-31-955780-9
|
Authors |
Fernando Alvarez, Grant A. Mitchell |
Abstract |
Tyrosinemia is a disease of the tyrosine metabolism, affecting mainly liver, kidney and peripheral nerves. Two forms of liver disease caused by a deficiency of FAH are recognised: (1) acute liver failure; (2) chronic liver disease. Since the introduction of NTBC [2-(2-nitro-4-trifluoromethyl benzoyl)-1-3-cyclohexanedione] (nitisinone(R)) in the treatment of tyrosinemia, no liver disease has been observed when started in the first weeks of life. Liver transplantation is a good option for the treatment of tyrosinemic patients developing liver nodules, with high suspicion of hepatocarcinoma. In the long-term outcome of the liver transplant, survival was of 90% in tyrosinemic patients. |
Mendeley readers
Geographical breakdown
Country | Count | As % |
---|---|---|
Unknown | 11 | 100% |
Demographic breakdown
Readers by professional status | Count | As % |
---|---|---|
Other | 3 | 27% |
Student > Master | 2 | 18% |
Student > Bachelor | 1 | 9% |
Researcher | 1 | 9% |
Student > Postgraduate | 1 | 9% |
Other | 0 | 0% |
Unknown | 3 | 27% |
Readers by discipline | Count | As % |
---|---|---|
Medicine and Dentistry | 4 | 36% |
Pharmacology, Toxicology and Pharmaceutical Science | 1 | 9% |
Veterinary Science and Veterinary Medicine | 1 | 9% |
Nursing and Health Professions | 1 | 9% |
Biochemistry, Genetics and Molecular Biology | 1 | 9% |
Other | 0 | 0% |
Unknown | 3 | 27% |