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The Coimbra University Hospital experience in liver transplantation in patients with familial amyloidotic polyneuropathy

2003; Elsevier BV; Volume: 35; Issue: 3 Linguagem: Inglês

10.1016/s0041-1345(03)00334-8

1873-2623

Rui Perdigoto, A L Furtado, Erikson Felipe Furtado, F.J. Oliveira, B Geraldes, O Mota, José Ferrão, Luís Tomé, Joaquim Viana,

Pneumocystis jirovecii pneumonia detection and treatment

AMILIAL amyloidotic polyneuropathy (FAP) is an inherited autosomal dominant systemic disease caused by an abnormal protein, the Transthyretin Methionine 30 (TTR Met 30, in the Portuguese variety methionine instead of valine). This abnormality is caused by a mutant gene in the 18th chromosome pair. The liver is the main site of production of the TTR Met 30 (more than 90%), and the largest affected populations are located in Europe (Portugal and Sweden) and Asia (Japan). Nevertheless there are scattered cases all over the world. Usually the disease becomes clinically apparent in the third decade of life, especially for the Portuguese variety, and progresses to death in 10 to 14 years. 1–5 Today liver transplantation is the only successful treatment for the disease. 4–6 Furthermore, the livers from patients with FAP can be used with success for other patients awaiting a liver transplant, such as patients with liver tumors and/or cirrhosis. 5 The neurological stage of the disease at the time of transplantation seems to be important for survival after the surgical procedure. 6