Familial amyloidotic polineuropathy and systemic lupus.
Familial amyloidotic polineuropathy is a genetic disorder, leading to systemic amyloid deposits, manifested as sensory-motor and autonomic neuropathy. In the Portuguese classical form, the disease is evident at a young age, and causes death if no specific treatment is received. Variability in penetrance, age of onset and clinical course has been published; environmental and genetic factors are believed to contribute to this variability. The authors report a case of a 51-year-old white female, with a medical history of acquired angioedema, late-onset familial amyloidotic polineuropathy and systemic lupus erythemathosus. The authors consider that these associated diseases could modulate their expression.
Department of Nephrology, Centro Hospitalar de Lisboa Central, Hospital de Curry Cabral, Lisbon, Portugal. karinadacostafer@hotmail.com
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D028227:Amyloid Neuropathies, Familial / Q000150:complications* / Q000175:diagnosis / Q000235:genetics / Q000276:immunology; D000799:Angioedema / Q000209:etiology; D001706:Biopsy; D004252:DNA Mutational Analysis; D005260:Female; D020022:Genetic Predisposition to Disease; D006801:Humans; D007668:Kidney / Q000473:pathology; D008180:Lupus Erythematosus, Systemic / Q000150:complications* / Q000175:diagnosis / Q000276:immunology; D008181:Lupus Nephritis / Q000209:etiology; D008875:Middle Aged; D010641:Phenotype; D011228:Prealbumin / Q000235:genetics; D011379:Prognosis; D051436:Renal Insufficiency, Chronic / Q000209:etiology; D012867:Skin / Q000473:pathology
D011228:Prealbumin