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Mutant fibrinogen A-alpha-chain associated with hereditary renal amyloidosis and peripheral neuropathy. 2004

Mamede de Carvalho, and Reinhold P Linke, and Fernando Domingos, and Teresinha Evangelista, and José Luís Ducla-Soares, and Walter B J Nathrath, and Conceição Azevedo-Coutinho, and Raquel Lima, and Maria João Saraiva
Department of Neurology, Hospital de Santa Maria, Lisbon, Portugal. mamedemg@mail.telepac.pt

A middle age Portuguese woman was investigated for renal amyloidosis. She presented with progressive renal failure, proteinuria, hypertension, and sensory symptoms in the feet. Clinical and neurophysiological evaluation disclosed sensory-autonomic neuropathy. Cardiovascular tests and 123-MIBG investigation showed parasympathetic dysfunction and decrease of myocardial innervation, in accordance with small fiber neuropathy, as usually observed in amyloidosis. Immunohistochemical studies revealed AFib amyloidosis and genetic studies the amino acid exchange Glu526Val of the fibrinogen Aalpha-chain mutation, which was also present in one of her sons. The mutant gene in this patient was associated with the same haplotype as all other reported cases of Glu526Val mutations. This is the first reported AFibamyloidosis in Portugal, and the first case of AFib in which sensory and autonomic nerve fiber dysfunction is described, indicating that small nerve fiber lesion can occur in the fibrinogen Aalpha chain mutation. This can be important for prognosis, in particular when liver transplantation is considered for treatment.

UI MeSH Term Description Entries
D007674 Kidney Diseases Pathological processes of the KIDNEY or its component tissues. Disease, Kidney,Diseases, Kidney,Kidney Disease
D008875 Middle Aged An adult aged 45 - 64 years. Middle Age
D010523 Peripheral Nervous System Diseases Diseases of the peripheral nerves external to the brain and spinal cord, which includes diseases of the nerve roots, ganglia, plexi, autonomic nerves, sensory nerves, and motor nerves. Peripheral Nerve Diseases,Peripheral Neuropathies,PNS (Peripheral Nervous System) Diseases,PNS Diseases,Peripheral Nervous System Disease,Peripheral Nervous System Disorders,Nerve Disease, Peripheral,Nerve Diseases, Peripheral,Neuropathy, Peripheral,PNS Disease,Peripheral Nerve Disease,Peripheral Neuropathy
D005260 Female Females
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D015241 Fibrinogens, Abnormal Fibrinogens which have a functional defect as the result of one or more amino acid substitutions in the amino acid sequence of normal fibrinogen. Abnormalities of the fibrinogen molecule may impair any of the major steps involved in the conversion of fibrinogen into stabilized fibrin, such as cleavage of the fibrinopeptides by thrombin, polymerization and cross-linking of fibrin. The resulting dysfibrinogenemias can be clinically silent or can be associated with bleeding, thrombosis or defective wound healing. Abnormal Fibrinogens
D017354 Point Mutation A mutation caused by the substitution of one nucleotide for another. This results in the DNA molecule having a change in a single base pair. Mutation, Point,Mutations, Point,Point Mutations
D019943 Amino Acid Substitution The naturally occurring or experimentally induced replacement of one or more AMINO ACIDS in a protein with another. If a functionally equivalent amino acid is substituted, the protein may retain wild-type activity. Substitution may also diminish, enhance, or eliminate protein function. Experimentally induced substitution is often used to study enzyme activities and binding site properties. Amino Acid Substitutions,Substitution, Amino Acid,Substitutions, Amino Acid
D028226 Amyloidosis, Familial Diseases in which there is a familial pattern of AMYLOIDOSIS. Amyloidosis, Hereditary,Amyloidoses, Familial,Amyloidoses, Hereditary,Familial Amyloidoses,Familial Amyloidosis,Hereditary Amyloidoses,Hereditary Amyloidosis

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