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Med Clin (Barc) ; 143(9): 401-3, 2014 Nov 07.
Artículo en Inglés | MEDLINE | ID: mdl-25183414

RESUMEN

BACKGROUND AND OBJECTIVE: We report 2 carriers of the TTRV30M mutation and its plasmatic biochemical marker with clinical symptoms compatible with hereditary TTR amyloidosis. MATERIALS AND METHODS: Based on our previously reported casual finding of amyloid TTR in nasal mucosa (2008), we requested biopsy of this tissue to search for amyloid with Congo red staining and TTR immunohistochemical analysis. RESULTS: The histological diagnosis was achieved by retrospective analysis of surgical sinonasal biopsy in the first patient and prospective biopsy of inferior nasal concha in the second. Large interstitial deposits of ATTR were observed in both cases. CONCLUSIONS: We suggest nasal mucosa as a suitable site for tissue biopsy in patients with suspected hereditary TTR amyloidosis.


Asunto(s)
Neuropatías Amiloides Familiares/patología , Mucosa Nasal/patología , Placa Amiloide/patología , Adulto , Biopsia , Femenino , Humanos , Masculino , Persona de Mediana Edad
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