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[Transthyretin-related hereditary amyloidosis]. 2016

Julien Vionnet, and Manuel Pascual, and Thierry Kuntzer, and Patrick Yerly, and Darius Moradpour
Service de gastroentérologie et d'hépatologie, CHUV, Université de Lausanne, 1011 Lausanne.

Transthyretin-related hereditary amyloidosis (ATTR) is a progressive and potentially lethal genetic disorder, transmitted as an autosomal dominant trait. Tissue injury is induced by amyloid fibrils consisting of mutated transthyretin. The symptomatology and clinical course of ATTR is highly variable but typically causes peripheral polyneuropathy and autonomic dysfunction, leading to death within 10 years. As transthyretin is produced mainly in the liver, liver transplantation was the first successful therapeutic approach. Several disease-modifying treatments, including transthyretin stabilizers and gene therapy, are now available or in clinical development, with promising results.

UI MeSH Term Description Entries
D008099 Liver A large lobed glandular organ in the abdomen of vertebrates that is responsible for detoxification, metabolism, synthesis and storage of various substances. Livers
D010641 Phenotype The outward appearance of the individual. It is the product of interactions between genes, and between the GENOTYPE and the environment. Phenotypes
D011228 Prealbumin A tetrameric protein, molecular weight between 50,000 and 70,000, consisting of 4 equal chains, and migrating on electrophoresis in 3 fractions more mobile than serum albumin. Its concentration ranges from 7 to 33 per cent in the serum, but levels decrease in liver disease. Proalbumin,Transthyretin
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000686 Amyloidosis A group of sporadic, familial and/or inherited, degenerative, and infectious disease processes, linked by the common theme of abnormal protein folding and deposition of AMYLOID. As the amyloid deposits enlarge they displace normal tissue structures, causing disruption of function. Various signs and symptoms depend on the location and size of the deposits. Amyloidoses
D016031 Liver Transplantation The transference of a part of or an entire liver from one human or animal to another. Grafting, Liver,Hepatic Transplantation,Liver Transplant,Transplantation, Hepatic,Transplantation, Liver,Hepatic Transplantations,Liver Grafting,Liver Transplantations,Liver Transplants,Transplant, Liver
D028227 Amyloid Neuropathies, Familial Inherited disorders of the peripheral nervous system associated with the deposition of AMYLOID in nerve tissue. The different clinical types based on symptoms correspond to the presence of a variety of mutations in several different proteins including transthyretin (PREALBUMIN); APOLIPOPROTEIN A-I; and GELSOLIN. Familial Amyloid Polyneuropathies,Amyloid Neuropathy Type 1,Amyloid Polyneuropathy, British Type,Amyloid Polyneuropathy, Iowa Type,Amyloid Polyneuropathy, Swiss Type,Appalachian Type Familial Amyloid Polyneuropathy,British Type Amyloid Polyneuropathy,Cerebral Amyloid Angiopathy, British Type,Familial Amyloid Neuropathy, Andrade Type,Familial Amyloid Neuropathy, Finnish Type,Familial Amyloid Neuropathy, Portuguese Type,Familial Amyloid Polyneuropathy, Appalachian Type,Familial Amyloid Polyneuropathy, Jewish Type,Familial Amyloid Polyneuropathy, Type I,Familial Amyloid Polyneuropathy, Type II,Familial Amyloid Polyneuropathy, Type III,Familial Amyloid Polyneuropathy, Type IV,Familial Amyloid Polyneuropathy, Type V,Familial Amyloid Polyneuropathy, Type VI,Familial Portuguese Polyneuritic Amyloidosis,Finnish Type Familial Amyloid Neuropathy,Hereditary Neuropathic Amyloidosis,Iowa Type Amyloid Polyneuropathy,Jewish Type Familial Amyloid Polyneuropathy,Neuropathic Amyloid Syndrome,Polyneuritic Amyloidosis, Portuguese,Portuguese Polyneuritic Amyloidosis,Portuguese Type Familial Amyloid Neuropathy,Swiss Type Amyloid Polyneuropathy,Type I Familial Amyloid Polyneuropathy,Type II Familial Amyloid Polyneuropathy,Type III Familial Amyloid Polyneuropathy,Type IV Familial Amyloid Polyneuropathy,Type V Familial Amyloid Polyneuropathy,Type VI Familial Amyloid Polyneuropathy,Wohlwill-Andrade Syndrome,Wohlwill-Corino Andrade Syndrome,Amyloid Neuropathy, Familial,Amyloid Polyneuropathies, Familial,Amyloid Polyneuropathy, Familial,Amyloid Syndrome, Neuropathic,Amyloid Syndromes, Neuropathic,Amyloidoses, Hereditary Neuropathic,Amyloidoses, Portuguese Polyneuritic,Amyloidosis, Hereditary Neuropathic,Amyloidosis, Portuguese Polyneuritic,Familial Amyloid Neuropathies,Familial Amyloid Neuropathy,Familial Amyloid Polyneuropathy,Hereditary Neuropathic Amyloidoses,Neuropathic Amyloid Syndromes,Neuropathic Amyloidoses, Hereditary,Neuropathic Amyloidosis, Hereditary,Neuropathies, Familial Amyloid,Neuropathy, Familial Amyloid,Polyneuritic Amyloidoses, Portuguese,Polyneuropathies, Familial Amyloid,Polyneuropathy, Familial Amyloid,Portuguese Polyneuritic Amyloidoses,Wohlwill Andrade Syndrome,Wohlwill Corino Andrade Syndrome

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