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Nutrición Hospitalaria
versión On-line ISSN 1699-5198versión impresa ISSN 0212-1611
Resumen
FERNANDEZ LOPEZ, María Teresa; GUILLIN AMARELLE, Cristina y MATO MATO, José Antonio. Severe hypocupremia and familial amyloid polyneuropathy. Nutr. Hosp. [online]. 2020, vol.37, n.1, pp.223-227. Epub 08-Jun-2020. ISSN 1699-5198. https://dx.doi.org/10.20960/nh.02771.
Introduction:
we report a patient with transthyretin familial amyloid polyneuropathy (TTR-FAP) and severe hypocupremia.
Case report:
a 79-year-old male with TTR-FAP and severe malnutrition. Laboratory tests showed low serum copper (Cu) and ceruloplasmin levels, as well as low urinary Cu levels. The patient reported neither digestive symptoms nor previous gastrointestinal surgery. Liver function tests, iron metabolism, hemoglobin, leukocytes and zinc were normal.
Discussion:
Cu is a trace element. It is part of the cuproenzymes involved in several physiological functions. Hypocupremia can be related to genetic or acquired etiologies, including low intake, bariatric surgery, increased losses, etc. Primary clinical manifestations include hematological (anemia and leukopenia) and neurological (myelopathy, peripheral neuropathy) features. Treatment is empirical. In severe cases it may be initiated with endovenose administration, followed by oral supplementation.
Palabras clave : TTR-FAP; Hypocupremia; Myelopathy; Peripheral neuropathy.
