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Titolo:
Familial amyloidotic polyneuropathy (ATTR Ser50Ile): the first autopsy case report
Autore:
Sakashita, N; Ando, Y; Obayashi, K; Terazaki, H; Yamashita, T; Takei, M; Kinjo, M; Takahashi, K;
Indirizzi:
Kumamoto Univ, Sch Med, Dept Pathol 2, Kumamoto 8600811, Japan Kumamoto Univ Kumamoto Japan 8600811 t Pathol 2, Kumamoto 8600811, Japan Kumamoto Univ, Sch Med, Dept Internal Med 1, Kumamoto 860, Japan Kumamoto Univ Kumamoto Japan 860 ept Internal Med 1, Kumamoto 860, Japan Kumamoto Univ, Sch Med, Dept Neurol, Kumamoto 860, Japan Kumamoto Univ Kumamoto Japan 860 h Med, Dept Neurol, Kumamoto 860, Japan Hara Sanshin Hosp, Div Urol, Fukuoka, Japan Hara Sanshin Hosp Fukuoka Japan Sanshin Hosp, Div Urol, Fukuoka, Japan Ryukyu Univ, Sch Med, Dept Pathol 1, Okinawa, Japan Ryukyu Univ Okinawa Japan Univ, Sch Med, Dept Pathol 1, Okinawa, Japan
Titolo Testata:
VIRCHOWS ARCHIV-AN INTERNATIONAL JOURNAL OF PATHOLOGY
fascicolo: 4, volume: 436, anno: 2000,
pagine: 345 - 350
SICI:
0945-6317(200004)436:4<345:FAP(ST>2.0.ZU;2-S
Fonte:
ISI
Lingua:
ENG
Soggetto:
TRANSTHYRETIN; MUTATION; GENE;
Keywords:
amyloidosis; ATTR Ser50Ile; autopsy; familial amyloidotic polyneuropathy transthyretin;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Life Sciences
Citazioni:
12
Recensione:
Indirizzi per estratti:
Indirizzo: Takahashi, K Kumamoto Univ, Sch Med, Dept Pathol 2, 2-2-1 Honjo, Kumamoto 8600811, Japan Kumamoto Univ 2-2-1 Honjo Kumamoto Japan 8600811 0811, Japan
Citazione:
N. Sakashita et al., "Familial amyloidotic polyneuropathy (ATTR Ser50Ile): the first autopsy case report", VIRCHOWS AR, 436(4), 2000, pp. 345-350

Abstract

We report an autopsy case of a pedigree of familial amyloidotic polyneuropathy (FAP) with a mutation of isoleucine-50 transthyretin (ATTR Ser50Ile), A 47-year-old man started developing severe diarrhea and weight loss at age41 years, followed by urinary incontinence, autonomic-nervous-system abnormalities and serious heart failure: the diagnosis of FAP (ATTR Ser50Ile) was made on the basis of genetic, histochemical and immunohistochemical analysis. Six years after the initial symptoms, he died of septic shock. Autopsyrevealed suppurative peritonitis, perforation of the sigmoid colon and marked systemic amyloid deposition. The total amount of amyloid deposited in the heart was greatly increased and was much lower in the thyroid gland and kidneys compared with amyloid deposits in ordinary FAP (ATTR Val30Met). Amyloid deposition in peripheral vessel walls was prominent, particularly in lymphatics and veins. His elder sister, 54 years old, started to develop orthostatic hypotension at age 49 years, followed by dysesthesia, diarrhea andsevere congestive heart failure. Endomyocardial biopsy revealed severe TTR-amyloid deposition; ultrastructural examination demonstrated that amyloid fibrils were deposited disproportionately and extended radially around microvessels. These characteristic patterns of systemic amyloid deposition and distinct clinical manifestations, especially in the cardiovascular system, are considered to be a characteristic feature of ATTR Ser50Ile amyloidosis.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 01/06/20 alle ore 01:03:37